Canonical Allele Identifier: CA2224356650

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56885286T= , CM000678.2:g.56885286T=	GRCh38
NC_000016.9:g.56919198T= , CM000678.1:g.56919198T=	GRCh37
NC_000016.8:g.55476699T=	NCBI36
NG_009386.1:g.25080T=
NG_009386.2:g.25080T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1847T= MANE Select	ENSP00000456149.2:p.Val616=
ENST00000262502.5:c.1844T=	ENSP00000262502.5:p.Val615=
ENST00000438926.6:c.1847T=	ENSP00000402152.2:p.Val616=
ENST00000563236.5:c.1847T=	ENSP00000456149.1:p.Val616=
ENST00000566786.5:c.1844T=	ENSP00000457552.1:p.Val615=
NM_000339.2:c.1847T=	NP_000330.2:p.Val616=
NM_001126107.1:c.1844T=	NP_001119579.1:p.Val615=
NM_001126108.1:c.1847T=	NP_001119580.1:p.Val616=
XM_005256119.1:c.1844T=	XP_005256176.1:p.Val615=
XM_005256119.2:c.1844T=	XP_005256176.1:p.Val615=
NM_000339.3:c.1847T=	NP_000330.3:p.Val616=
NM_001126107.2:c.1844T=	NP_001119579.2:p.Val615=
NM_001126108.2:c.1847T= MANE Select	NP_001119580.2:p.Val616=