Canonical Allele Identifier: CA2224356184

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884099G= , CM000678.2:g.56884099G=	GRCh38
NC_000016.9:g.56918011G= , CM000678.1:g.56918011G=	GRCh37
NC_000016.8:g.55475512G=	NCBI36
NG_009386.1:g.23893G=
NG_009386.2:g.23893G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1720G= MANE Select	ENSP00000456149.2:p.Ala574=
ENST00000262502.5:c.1717G=	ENSP00000262502.5:p.Ala573=
ENST00000438926.6:c.1720G=	ENSP00000402152.2:p.Ala574=
ENST00000563236.5:c.1720G=	ENSP00000456149.1:p.Ala574=
ENST00000566786.5:c.1717G=	ENSP00000457552.1:p.Ala573=
NM_000339.2:c.1720G=	NP_000330.2:p.Ala574=
NM_001126107.1:c.1717G=	NP_001119579.1:p.Ala573=
NM_001126108.1:c.1720G=	NP_001119580.1:p.Ala574=
XM_005256119.1:c.1717G=	XP_005256176.1:p.Ala573=
XM_005256119.2:c.1717G=	XP_005256176.1:p.Ala573=
NM_000339.3:c.1720G=	NP_000330.3:p.Ala574=
NM_001126107.2:c.1717G=	NP_001119579.2:p.Ala573=
NM_001126108.2:c.1720G= MANE Select	NP_001119580.2:p.Ala574=