Canonical Allele Identifier: CA119780
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8595
dbSNP Id: rs121909385

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56885307T>C , CM000678.2:g.56885307T>C GRCh38
NC_000016.9:g.56919219T>C , CM000678.1:g.56919219T>C GRCh37
NC_000016.8:g.55476720T>C NCBI36
NG_009386.1:g.25101T>C
NG_009386.2:g.25101T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.1868T>C MANE Select ENSP00000456149.2:p.Leu623Pro
ENST00000262502.5:c.1865T>C ENSP00000262502.5:p.Leu622Pro
ENST00000438926.6:c.1868T>C ENSP00000402152.2:p.Leu623Pro
ENST00000563236.5:c.1868T>C ENSP00000456149.1:p.Leu623Pro
ENST00000566786.5:c.1865T>C ENSP00000457552.1:p.Leu622Pro
NM_000339.2:c.1868T>C NP_000330.2:p.Leu623Pro
NM_001126107.1:c.1865T>C NP_001119579.1:p.Leu622Pro
NM_001126108.1:c.1868T>C NP_001119580.1:p.Leu623Pro
XM_005256119.1:c.1865T>C XP_005256176.1:p.Leu622Pro
XM_005256119.2:c.1865T>C XP_005256176.1:p.Leu622Pro
NM_000339.3:c.1868T>C NP_000330.3:p.Leu623Pro
NM_001126107.2:c.1865T>C NP_001119579.2:p.Leu622Pro
NM_001126108.2:c.1868T>C MANE Select NP_001119580.2:p.Leu623Pro