Canonical Allele Identifier: CA8069407
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 319899
dbSNP Id: rs368455032

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56879141G>A , CM000678.2:g.56879141G>A GRCh38
NC_000016.9:g.56913053G>A , CM000678.1:g.56913053G>A GRCh37
NC_000016.8:g.55470554G>A NCBI36
NG_009386.1:g.18935G>A
NG_009386.2:g.18935G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1249G>A MANE Select ENSP00000456149.2:p.Glu417Lys
ENST00000262502.5:c.1246G>A ENSP00000262502.5:p.Glu416Lys
ENST00000438926.6:c.1249G>A ENSP00000402152.2:p.Glu417Lys
ENST00000563236.5:c.1249G>A ENSP00000456149.1:p.Glu417Lys
ENST00000566786.5:c.1246G>A ENSP00000457552.1:p.Glu416Lys
NM_000339.2:c.1249G>A NP_000330.2:p.Glu417Lys
NM_001126107.1:c.1246G>A NP_001119579.1:p.Glu416Lys
NM_001126108.1:c.1249G>A NP_001119580.1:p.Glu417Lys
XM_005256119.1:c.1246G>A XP_005256176.1:p.Glu416Lys
XM_005256119.2:c.1246G>A XP_005256176.1:p.Glu416Lys
NM_000339.3:c.1249G>A NP_000330.3:p.Glu417Lys
NM_001126107.2:c.1246G>A NP_001119579.2:p.Glu416Lys
NM_001126108.2:c.1249G>A MANE Select NP_001119580.2:p.Glu417Lys