Canonical Allele Identifier: CA2224349339

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870227C= , CM000678.2:g.56870227C=	GRCh38
NC_000016.9:g.56904139C= , CM000678.1:g.56904139C=	GRCh37
NC_000016.8:g.55461640C=	NCBI36
NG_009386.1:g.10021C=
NG_009386.2:g.10021C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.733C= MANE Select	ENSP00000456149.2:p.Leu245=
ENST00000262502.5:c.730C=	ENSP00000262502.5:p.Leu244=
ENST00000438926.6:c.733C=	ENSP00000402152.2:p.Leu245=
ENST00000563236.5:c.733C=	ENSP00000456149.1:p.Leu245=
ENST00000566786.5:c.730C=	ENSP00000457552.1:p.Leu244=
NM_000339.2:c.733C=	NP_000330.2:p.Leu245=
NM_001126107.1:c.730C=	NP_001119579.1:p.Leu244=
NM_001126108.1:c.733C=	NP_001119580.1:p.Leu245=
XM_005256119.1:c.730C=	XP_005256176.1:p.Leu244=
XM_005256119.2:c.730C=	XP_005256176.1:p.Leu244=
NM_000339.3:c.733C=	NP_000330.3:p.Leu245=
NM_001126107.2:c.730C=	NP_001119579.2:p.Leu244=
NM_001126108.2:c.733C= MANE Select	NP_001119580.2:p.Leu245=