Canonical Allele Identifier: CA2224353970
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56879600C= , CM000678.2:g.56879600C= GRCh38
NC_000016.9:g.56913512C= , CM000678.1:g.56913512C= GRCh37
NC_000016.8:g.55471013C= NCBI36
NG_009386.1:g.19394C=
NG_009386.2:g.19394C=

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.1394C= MANE Select ENSP00000456149.2:p.Thr465=
ENST00000262502.5:c.1391C= ENSP00000262502.5:p.Thr464=
ENST00000438926.6:c.1394C= ENSP00000402152.2:p.Thr465=
ENST00000563236.5:c.1394C= ENSP00000456149.1:p.Thr465=
ENST00000566786.5:c.1391C= ENSP00000457552.1:p.Thr464=
NM_000339.2:c.1394C= NP_000330.2:p.Thr465=
NM_001126107.1:c.1391C= NP_001119579.1:p.Thr464=
NM_001126108.1:c.1394C= NP_001119580.1:p.Thr465=
XM_005256119.1:c.1391C= XP_005256176.1:p.Thr464=
XM_005256119.2:c.1391C= XP_005256176.1:p.Thr464=
NM_000339.3:c.1394C= NP_000330.3:p.Thr465=
NM_001126107.2:c.1391C= NP_001119579.2:p.Thr464=
NM_001126108.2:c.1394C= MANE Select NP_001119580.2:p.Thr465=