Canonical Allele Identifier: CA2224365745

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904441G= , CM000678.2:g.56904441G=	GRCh38
NC_000016.9:g.56938353G= , CM000678.1:g.56938353G=	GRCh37
NC_000016.8:g.55495854G=	NCBI36
NG_009386.1:g.44235G=
NG_009386.2:g.44235G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2903G= MANE Select	ENSP00000456149.2:p.Arg968=
ENST00000262502.5:c.2900G=	ENSP00000262502.5:p.Arg967=
ENST00000438926.6:c.2930G=	ENSP00000402152.2:p.Arg977=
ENST00000563236.5:c.2903G=	ENSP00000456149.1:p.Arg968=
ENST00000566786.5:c.2927G=	ENSP00000457552.1:p.Arg976=
ENST00000569002.1:n.334G=
NM_000339.2:c.2930G=	NP_000330.2:p.Arg977=
NM_001126107.1:c.2927G=	NP_001119579.1:p.Arg976=
NM_001126108.1:c.2903G=	NP_001119580.1:p.Arg968=
XM_005256119.1:c.2900G=	XP_005256176.1:p.Arg967=
XM_005256119.2:c.2900G=	XP_005256176.1:p.Arg967=
NM_000339.3:c.2930G=	NP_000330.3:p.Arg977=
NM_001126107.2:c.2927G=	NP_001119579.2:p.Arg976=
NM_001126108.2:c.2903G= MANE Select	NP_001119580.2:p.Arg968=