Canonical Allele Identifier: CA2224361263
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56894633A= , CM000678.2:g.56894633A= GRCh38
NC_000016.9:g.56928545A= , CM000678.1:g.56928545A= GRCh37
NC_000016.8:g.55486046A= NCBI36
NG_009386.1:g.34427A=
NG_009386.2:g.34427A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2624A= MANE Select ENSP00000456149.2:p.Glu875=
ENST00000262502.5:c.2621A= ENSP00000262502.5:p.Glu874=
ENST00000438926.6:c.2651A= ENSP00000402152.2:p.Glu884=
ENST00000563236.5:c.2624A= ENSP00000456149.1:p.Glu875=
ENST00000566786.5:c.2648A= ENSP00000457552.1:p.Glu883=
NM_000339.2:c.2651A= NP_000330.2:p.Glu884=
NM_001126107.1:c.2648A= NP_001119579.1:p.Glu883=
NM_001126108.1:c.2624A= NP_001119580.1:p.Glu875=
XM_005256119.1:c.2621A= XP_005256176.1:p.Glu874=
XM_005256119.2:c.2621A= XP_005256176.1:p.Glu874=
NM_000339.3:c.2651A= NP_000330.3:p.Glu884=
NM_001126107.2:c.2648A= NP_001119579.2:p.Glu883=
NM_001126108.2:c.2624A= MANE Select NP_001119580.2:p.Glu875=