Canonical Allele Identifier: CA2224358085

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887983G= , CM000678.2:g.56887983G=	GRCh38
NC_000016.9:g.56921895G= , CM000678.1:g.56921895G=	GRCh37
NC_000016.8:g.55479396G=	NCBI36
NG_009386.1:g.27777G=
NG_009386.2:g.27777G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2237G= MANE Select	ENSP00000456149.2:p.Trp746=
ENST00000262502.5:c.2234G=	ENSP00000262502.5:p.Trp745=
ENST00000438926.6:c.2237G=	ENSP00000402152.2:p.Trp746=
ENST00000563236.5:c.2237G=	ENSP00000456149.1:p.Trp746=
ENST00000566786.5:c.2234G=	ENSP00000457552.1:p.Trp745=
NM_000339.2:c.2237G=	NP_000330.2:p.Trp746=
NM_001126107.1:c.2234G=	NP_001119579.1:p.Trp745=
NM_001126108.1:c.2237G=	NP_001119580.1:p.Trp746=
XM_005256119.1:c.2234G=	XP_005256176.1:p.Trp745=
XM_005256119.2:c.2234G=	XP_005256176.1:p.Trp745=
NM_000339.3:c.2237G=	NP_000330.3:p.Trp746=
NM_001126107.2:c.2234G=	NP_001119579.2:p.Trp745=
NM_001126108.2:c.2237G= MANE Select	NP_001119580.2:p.Trp746=