Canonical Allele Identifier: CA2224361224

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894563C= , CM000678.2:g.56894563C=	GRCh38
NC_000016.9:g.56928475C= , CM000678.1:g.56928475C=	GRCh37
NC_000016.8:g.55485976C=	NCBI36
NG_009386.1:g.34357C=
NG_009386.2:g.34357C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2554C= MANE Select	ENSP00000456149.2:p.Arg852=
ENST00000262502.5:c.2551C=	ENSP00000262502.5:p.Arg851=
ENST00000438926.6:c.2581C=	ENSP00000402152.2:p.Arg861=
ENST00000563236.5:c.2554C=	ENSP00000456149.1:p.Arg852=
ENST00000566786.5:c.2578C=	ENSP00000457552.1:p.Arg860=
NM_000339.2:c.2581C=	NP_000330.2:p.Arg861=
NM_001126107.1:c.2578C=	NP_001119579.1:p.Arg860=
NM_001126108.1:c.2554C=	NP_001119580.1:p.Arg852=
XM_005256119.1:c.2551C=	XP_005256176.1:p.Arg851=
XM_005256119.2:c.2551C=	XP_005256176.1:p.Arg851=
NM_000339.3:c.2581C=	NP_000330.3:p.Arg861=
NM_001126107.2:c.2578C=	NP_001119579.2:p.Arg860=
NM_001126108.2:c.2554C= MANE Select	NP_001119580.2:p.Arg852=