Canonical Allele Identifier: CA8070191

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56913365G>A , CM000678.2:g.56913365G>A	GRCh38
NC_000016.9:g.56947277G>A , CM000678.1:g.56947277G>A	GRCh37
NC_000016.8:g.55504778G>A	NCBI36
NG_009386.1:g.53159G>A
NG_009386.2:g.53159G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001126108.2:c.3026G>A MANE Select	NP_001119580.2:p.Arg1009Gln
ENST00000563236.6:c.3026G>A MANE Select	ENSP00000456149.2:p.Arg1009Gln
NM_000339.2:c.3053G>A	NP_000330.2:p.Arg1018Gln
NM_000339.3:c.3053G>A	NP_000330.3:p.Arg1018Gln
NM_001126107.1:c.3050G>A	NP_001119579.1:p.Arg1017Gln
NM_001126107.2:c.3050G>A	NP_001119579.2:p.Arg1017Gln
NM_001126108.1:c.3026G>A	NP_001119580.1:p.Arg1009Gln
ENST00000262502.5:c.3023G>A	ENSP00000262502.5:p.Arg1008Gln
ENST00000438926.6:c.3053G>A	ENSP00000402152.2:p.Arg1018Gln
ENST00000563236.5:c.3026G>A	ENSP00000456149.1:p.Arg1009Gln
ENST00000563352.1:n.174G>A
ENST00000566786.5:c.3050G>A	ENSP00000457552.1:p.Arg1017Gln
XM_005256119.1:c.3023G>A	XP_005256176.1:p.Arg1008Gln
XM_005256119.2:c.3023G>A	XP_005256176.1:p.Arg1008Gln