Canonical Allele Identifier: CA2224361218

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894555T= , CM000678.2:g.56894555T=	GRCh38
NC_000016.9:g.56928467T= , CM000678.1:g.56928467T=	GRCh37
NC_000016.8:g.55485968T=	NCBI36
NG_009386.1:g.34349T=
NG_009386.2:g.34349T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2546T= MANE Select	ENSP00000456149.2:p.Leu849=
ENST00000262502.5:c.2543T=	ENSP00000262502.5:p.Leu848=
ENST00000438926.6:c.2573T=	ENSP00000402152.2:p.Leu858=
ENST00000563236.5:c.2546T=	ENSP00000456149.1:p.Leu849=
ENST00000566786.5:c.2570T=	ENSP00000457552.1:p.Leu857=
NM_000339.2:c.2573T=	NP_000330.2:p.Leu858=
NM_001126107.1:c.2570T=	NP_001119579.1:p.Leu857=
NM_001126108.1:c.2546T=	NP_001119580.1:p.Leu849=
XM_005256119.1:c.2543T=	XP_005256176.1:p.Leu848=
XM_005256119.2:c.2543T=	XP_005256176.1:p.Leu848=
NM_000339.3:c.2573T=	NP_000330.3:p.Leu858=
NM_001126107.2:c.2570T=	NP_001119579.2:p.Leu857=
NM_001126108.2:c.2546T= MANE Select	NP_001119580.2:p.Leu849=