Canonical Allele Identifier: CA495612757

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 885392
• ClinVar RCV Id: RCV001116971 ; RCV001406118
• dbSNP Id: rs191194366
• MyVariant Identifiers: chr16:g.56928484A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894572A>C , CM000678.2:g.56894572A>C	GRCh38
NC_000016.9:g.56928484A>C , CM000678.1:g.56928484A>C	GRCh37
NC_000016.8:g.55485985A>C	NCBI36
NG_009386.1:g.34366A>C
NG_009386.2:g.34366A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2563A>C MANE Select	ENSP00000456149.2:p.Arg855=
ENST00000262502.5:c.2560A>C	ENSP00000262502.5:p.Arg854=
ENST00000438926.6:c.2590A>C	ENSP00000402152.2:p.Arg864=
ENST00000563236.5:c.2563A>C	ENSP00000456149.1:p.Arg855=
ENST00000566786.5:c.2587A>C	ENSP00000457552.1:p.Arg863=
NM_000339.2:c.2590A>C	NP_000330.2:p.Arg864=
NM_001126107.1:c.2587A>C	NP_001119579.1:p.Arg863=
NM_001126108.1:c.2563A>C	NP_001119580.1:p.Arg855=
XM_005256119.1:c.2560A>C	XP_005256176.1:p.Arg854=
XM_005256119.2:c.2560A>C	XP_005256176.1:p.Arg854=
NM_000339.3:c.2590A>C	NP_000330.3:p.Arg864=
NM_001126107.2:c.2587A>C	NP_001119579.2:p.Arg863=
NM_001126108.2:c.2563A>C MANE Select	NP_001119580.2:p.Arg855=