Canonical Allele Identifier: CA2224365734
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56904415G= , CM000678.2:g.56904415G= GRCh38
NC_000016.9:g.56938327G= , CM000678.1:g.56938327G= GRCh37
NC_000016.8:g.55495828G= NCBI36
NG_009386.1:g.44209G=
NG_009386.2:g.44209G=

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.2877G= MANE Select ENSP00000456149.2:p.Leu959=
ENST00000262502.5:c.2874G= ENSP00000262502.5:p.Leu958=
ENST00000438926.6:c.2904G= ENSP00000402152.2:p.Leu968=
ENST00000563236.5:c.2877G= ENSP00000456149.1:p.Leu959=
ENST00000566786.5:c.2901G= ENSP00000457552.1:p.Leu967=
ENST00000569002.1:n.308G=
NM_000339.2:c.2904G= NP_000330.2:p.Leu968=
NM_001126107.1:c.2901G= NP_001119579.1:p.Leu967=
NM_001126108.1:c.2877G= NP_001119580.1:p.Leu959=
XM_005256119.1:c.2874G= XP_005256176.1:p.Leu958=
XM_005256119.2:c.2874G= XP_005256176.1:p.Leu958=
NM_000339.3:c.2904G= NP_000330.3:p.Leu968=
NM_001126107.2:c.2901G= NP_001119579.2:p.Leu967=
NM_001126108.2:c.2877G= MANE Select NP_001119580.2:p.Leu959=