Canonical Allele Identifier: CA495613339

Gene: SLC12A3

Linked Data

• MyVariant Identifiers: chr16:g.56936364C>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2800C>A MANE Select	ENSP00000456149.2:p.Arg934=
ENST00000262502.5:c.2797C>A	ENSP00000262502.5:p.Arg933=
ENST00000438926.6:c.2827C>A	ENSP00000402152.2:p.Arg943=
ENST00000563236.5:c.2800C>A	ENSP00000456149.1:p.Arg934=
ENST00000566786.5:c.2824C>A	ENSP00000457552.1:p.Arg942=
ENST00000569002.1:n.231C>A
NM_000339.2:c.2827C>A	NP_000330.2:p.Arg943=
NM_001126107.1:c.2824C>A	NP_001119579.1:p.Arg942=
NM_001126108.1:c.2800C>A	NP_001119580.1:p.Arg934=
XM_005256119.1:c.2797C>A	XP_005256176.1:p.Arg933=
XM_005256119.2:c.2797C>A	XP_005256176.1:p.Arg933=
NM_000339.3:c.2827C>A	NP_000330.3:p.Arg943=
NM_001126107.2:c.2824C>A	NP_001119579.2:p.Arg942=
NM_001126108.2:c.2800C>A MANE Select	NP_001119580.2:p.Arg934=