Canonical Allele Identifier: CA2224349299

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870163C= , CM000678.2:g.56870163C=	GRCh38
NC_000016.9:g.56904075C= , CM000678.1:g.56904075C=	GRCh37
NC_000016.8:g.55461576C=	NCBI36
NG_009386.1:g.9957C=
NG_009386.2:g.9957C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.669C= MANE Select	ENSP00000456149.2:p.Phe223=
ENST00000262502.5:c.666C=	ENSP00000262502.5:p.Phe222=
ENST00000438926.6:c.669C=	ENSP00000402152.2:p.Phe223=
ENST00000563236.5:c.669C=	ENSP00000456149.1:p.Phe223=
ENST00000566786.5:c.666C=	ENSP00000457552.1:p.Phe222=
NM_000339.2:c.669C=	NP_000330.2:p.Phe223=
NM_001126107.1:c.666C=	NP_001119579.1:p.Phe222=
NM_001126108.1:c.669C=	NP_001119580.1:p.Phe223=
XM_005256119.1:c.666C=	XP_005256176.1:p.Phe222=
XM_005256119.2:c.666C=	XP_005256176.1:p.Phe222=
NM_000339.3:c.669C=	NP_000330.3:p.Phe223=
NM_001126107.2:c.666C=	NP_001119579.2:p.Phe222=
NM_001126108.2:c.669C= MANE Select	NP_001119580.2:p.Phe223=