ClinVar

NM_001370549.1(SLC16A11):c.1088G>A (p.Gly363Glu)

Genes:

LOC130060101:ATAC-STARR-seq lymphoblastoid silent region 8082 [Gene]
SLC16A11:solute carrier family 16 member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7042022 (on Assembly GRCh38)
• Chr17: 6945341 (on Assembly GRCh37)

Preferred name:

NM_001370549.1(SLC16A11):c.1088G>A (p.Gly363Glu)

HGVS:

• NC_000017.11:g.7042022C>T
• NM_001370549.1:c.1088G>AMANE SELECT
• NM_001370553.1:c.1088G>A
• NM_153357.3:c.1088G>A
• NP_001357478.1:p.Gly363Glu
• NP_001357482.1:p.Gly363Glu
• NP_699188.2:p.Gly363Glu
• NC_000017.10:g.6945341C>T
• NM_153357.1:c.1160G>A

This HGVS expression did not pass validation

Protein change:

G363E

Molecular consequence:

• NM_001370549.1:c.1088G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370553.1:c.1088G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153357.3:c.1088G>A - missense variant - [Sequence Ontology: SO:0001583]