ClinVar

NM_004594.3(SLC9A5):c.2027C>T (p.Ala676Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 67265053 (on Assembly GRCh38)
• Chr16: 67298956 (on Assembly GRCh37)

Preferred name:

NM_004594.3(SLC9A5):c.2027C>T (p.Ala676Val)

HGVS:

• NC_000016.10:g.67265053C>T
• NM_001323971.2:c.1842+5107C>T
• NM_001323972.2:c.1724C>T
• NM_001323973.2:c.2024C>T
• NM_001323974.2:c.1139C>T
• NM_001323975.2:c.1142C>T
• NM_004594.3:c.2027C>TMANE SELECT
• NP_001310901.1:p.Ala575Val
• NP_001310902.1:p.Ala675Val
• NP_001310903.1:p.Ala380Val
• NP_001310904.1:p.Ala381Val
• NP_004585.1:p.Ala676Val
• NC_000016.9:g.67298956C>T
• NM_004594.2:c.2027C>T
• NR_136664.2:n.2055C>T
• NR_136665.2:n.1853C>T
• NR_136666.2:n.1814C>T

This HGVS expression did not pass validation

Protein change:

A380V

Molecular consequence:

• NM_001323971.2:c.1842+5107C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323972.2:c.1724C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323973.2:c.2024C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323974.2:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323975.2:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004594.3:c.2027C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136664.2:n.2055C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136665.2:n.1853C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136666.2:n.1814C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]