ClinVar

NM_004594.3(SLC9A5):c.1737G>A (p.Ala579=)

Gene:

SLC9A5:solute carrier family 9 member A5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 67259841 (on Assembly GRCh38)
• Chr16: 67293744 (on Assembly GRCh37)

Preferred name:

NM_004594.3(SLC9A5):c.1737G>A (p.Ala579=)

HGVS:

• NC_000016.10:g.67259841G>A
• NM_001323971.2:c.1737G>A
• NM_001323972.2:c.1434G>A
• NM_001323973.2:c.1737G>A
• NM_001323974.2:c.852G>A
• NM_001323975.2:c.852G>A
• NM_004594.3:c.1737G>AMANE SELECT
• NP_001310900.1:p.Ala579=
• NP_001310901.1:p.Ala478=
• NP_001310902.1:p.Ala579=
• NP_001310903.1:p.Ala284=
• NP_001310904.1:p.Ala284=
• NP_004585.1:p.Ala579=
• NC_000016.9:g.67293744G>A
• NR_136664.2:n.1687G>A
• NR_136665.2:n.1563G>A
• NR_136666.2:n.1524G>A
• NR_136667.2:n.1687G>A

This HGVS expression did not pass validation

Molecular consequence:

• NR_136664.2:n.1687G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136665.2:n.1563G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136666.2:n.1524G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136667.2:n.1687G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001323971.2:c.1737G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323972.2:c.1434G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323973.2:c.1737G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323974.2:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323975.2:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004594.3:c.1737G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1