Canonical Allele Identifier: CA8069291
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 498813
dbSNP Id: rs142679083

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56872656C>T , CM000678.2:g.56872656C>T GRCh38
NC_000016.9:g.56906568C>T , CM000678.1:g.56906568C>T GRCh37
NC_000016.8:g.55464069C>T NCBI36
NG_009386.1:g.12450C>T
NG_009386.2:g.12450C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.965C>T MANE Select ENSP00000456149.2:p.Ala322Val
ENST00000262502.5:c.962C>T ENSP00000262502.5:p.Ala321Val
ENST00000438926.6:c.965C>T ENSP00000402152.2:p.Ala322Val
ENST00000563236.5:c.965C>T ENSP00000456149.1:p.Ala322Val
ENST00000566786.5:c.962C>T ENSP00000457552.1:p.Ala321Val
NM_000339.2:c.965C>T NP_000330.2:p.Ala322Val
NM_001126107.1:c.962C>T NP_001119579.1:p.Ala321Val
NM_001126108.1:c.965C>T NP_001119580.1:p.Ala322Val
XM_005256119.1:c.962C>T XP_005256176.1:p.Ala321Val
XM_005256119.2:c.962C>T XP_005256176.1:p.Ala321Val
NM_000339.3:c.965C>T NP_000330.3:p.Ala322Val
NM_001126107.2:c.962C>T NP_001119579.2:p.Ala321Val
NM_001126108.2:c.965C>T MANE Select NP_001119580.2:p.Ala322Val