Canonical Allele Identifier: CA395987283
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1684160
ClinVar RCV Id: RCV002245159
dbSNP Id: rs2144712544

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56879555T>G , CM000678.2:g.56879555T>G GRCh38
NC_000016.9:g.56913467T>G , CM000678.1:g.56913467T>G GRCh37
NC_000016.8:g.55470968T>G NCBI36
NG_009386.1:g.19349T>G
NG_009386.2:g.19349T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1349T>G MANE Select ENSP00000456149.2:p.Val450Gly
ENST00000262502.5:c.1346T>G ENSP00000262502.5:p.Val449Gly
ENST00000438926.6:c.1349T>G ENSP00000402152.2:p.Val450Gly
ENST00000563236.5:c.1349T>G ENSP00000456149.1:p.Val450Gly
ENST00000566786.5:c.1346T>G ENSP00000457552.1:p.Val449Gly
NM_000339.2:c.1349T>G NP_000330.2:p.Val450Gly
NM_001126107.1:c.1346T>G NP_001119579.1:p.Val449Gly
NM_001126108.1:c.1349T>G NP_001119580.1:p.Val450Gly
XM_005256119.1:c.1346T>G XP_005256176.1:p.Val449Gly
XM_005256119.2:c.1346T>G XP_005256176.1:p.Val449Gly
NM_000339.3:c.1349T>G NP_000330.3:p.Val450Gly
NM_001126107.2:c.1346T>G NP_001119579.2:p.Val449Gly
NM_001126108.2:c.1349T>G MANE Select NP_001119580.2:p.Val450Gly