Canonical Allele Identifier: CA119776
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8592
dbSNP Id: rs121909383

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56872737C>T , CM000678.2:g.56872737C>T GRCh38
NC_000016.9:g.56906649C>T , CM000678.1:g.56906649C>T GRCh37
NC_000016.8:g.55464150C>T NCBI36
NG_009386.1:g.12531C>T
NG_009386.2:g.12531C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.1046C>T MANE Select ENSP00000456149.2:p.Pro349Leu
ENST00000262502.5:c.1043C>T ENSP00000262502.5:p.Pro348Leu
ENST00000438926.6:c.1046C>T ENSP00000402152.2:p.Pro349Leu
ENST00000563236.5:c.1046C>T ENSP00000456149.1:p.Pro349Leu
ENST00000566786.5:c.1043C>T ENSP00000457552.1:p.Pro348Leu
NM_000339.2:c.1046C>T NP_000330.2:p.Pro349Leu
NM_001126107.1:c.1043C>T NP_001119579.1:p.Pro348Leu
NM_001126108.1:c.1046C>T NP_001119580.1:p.Pro349Leu
XM_005256119.1:c.1043C>T XP_005256176.1:p.Pro348Leu
XM_005256119.2:c.1043C>T XP_005256176.1:p.Pro348Leu
NM_000339.3:c.1046C>T NP_000330.3:p.Pro349Leu
NM_001126107.2:c.1043C>T NP_001119579.2:p.Pro348Leu
NM_001126108.2:c.1046C>T MANE Select NP_001119580.2:p.Pro349Leu