Canonical Allele Identifier: CA2224364847
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56902493G= , CM000678.2:g.56902493G= GRCh38
NC_000016.9:g.56936405G= , CM000678.1:g.56936405G= GRCh37
NC_000016.8:g.55493906G= NCBI36
NG_009386.1:g.42287G=
NG_009386.2:g.42287G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2841G= MANE Select ENSP00000456149.2:p.Thr947=
ENST00000262502.5:c.2838G= ENSP00000262502.5:p.Thr946=
ENST00000438926.6:c.2868G= ENSP00000402152.2:p.Thr956=
ENST00000563236.5:c.2841G= ENSP00000456149.1:p.Thr947=
ENST00000566786.5:c.2865G= ENSP00000457552.1:p.Thr955=
ENST00000569002.1:n.272G=
NM_000339.2:c.2868G= NP_000330.2:p.Thr956=
NM_001126107.1:c.2865G= NP_001119579.1:p.Thr955=
NM_001126108.1:c.2841G= NP_001119580.1:p.Thr947=
XM_005256119.1:c.2838G= XP_005256176.1:p.Thr946=
XM_005256119.2:c.2838G= XP_005256176.1:p.Thr946=
NM_000339.3:c.2868G= NP_000330.3:p.Thr956=
NM_001126107.2:c.2865G= NP_001119579.2:p.Thr955=
NM_001126108.2:c.2841G= MANE Select NP_001119580.2:p.Thr947=