Canonical Allele Identifier: CA8070062

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902452C>T , CM000678.2:g.56902452C>T	GRCh38
NC_000016.9:g.56936364C>T , CM000678.1:g.56936364C>T	GRCh37
NC_000016.8:g.55493865C>T	NCBI36
NG_009386.1:g.42246C>T
NG_009386.2:g.42246C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001126108.2:c.2800C>T MANE Select	NP_001119580.2:p.Arg934Trp
ENST00000563236.6:c.2800C>T MANE Select	ENSP00000456149.2:p.Arg934Trp
NM_000339.2:c.2827C>T	NP_000330.2:p.Arg943Trp
NM_000339.3:c.2827C>T	NP_000330.3:p.Arg943Trp
NM_001126107.1:c.2824C>T	NP_001119579.1:p.Arg942Trp
NM_001126107.2:c.2824C>T	NP_001119579.2:p.Arg942Trp
NM_001126108.1:c.2800C>T	NP_001119580.1:p.Arg934Trp
ENST00000262502.5:c.2797C>T	ENSP00000262502.5:p.Arg933Trp
ENST00000438926.6:c.2827C>T	ENSP00000402152.2:p.Arg943Trp
ENST00000563236.5:c.2800C>T	ENSP00000456149.1:p.Arg934Trp
ENST00000566786.5:c.2824C>T	ENSP00000457552.1:p.Arg942Trp
ENST00000569002.1:n.231C>T
XM_005256119.1:c.2797C>T	XP_005256176.1:p.Arg933Trp
XM_005256119.2:c.2797C>T	XP_005256176.1:p.Arg933Trp