Canonical Allele Identifier: CA8069981

Gene: SLC12A3

Linked Data

• dbSNP Id: rs763120816
• ExAC: 16:56928533 G / C
• gnomAD v2: 16-56928533-G-C
• gnomAD v4: 16-56894621-G-C
• MyVariant Identifiers: chr16:g.56928533G>C (hg19) ; chr16:g.56894621G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894621G>C , CM000678.2:g.56894621G>C	GRCh38
NC_000016.9:g.56928533G>C , CM000678.1:g.56928533G>C	GRCh37
NC_000016.8:g.55486034G>C	NCBI36
NG_009386.1:g.34415G>C
NG_009386.2:g.34415G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2612G>C MANE Select	ENSP00000456149.2:p.Arg871Thr
ENST00000262502.5:c.2609G>C	ENSP00000262502.5:p.Arg870Thr
ENST00000438926.6:c.2639G>C	ENSP00000402152.2:p.Arg880Thr
ENST00000563236.5:c.2612G>C	ENSP00000456149.1:p.Arg871Thr
ENST00000566786.5:c.2636G>C	ENSP00000457552.1:p.Arg879Thr
NM_000339.2:c.2639G>C	NP_000330.2:p.Arg880Thr
NM_001126107.1:c.2636G>C	NP_001119579.1:p.Arg879Thr
NM_001126108.1:c.2612G>C	NP_001119580.1:p.Arg871Thr
XM_005256119.1:c.2609G>C	XP_005256176.1:p.Arg870Thr
XM_005256119.2:c.2609G>C	XP_005256176.1:p.Arg870Thr
NM_000339.3:c.2639G>C	NP_000330.3:p.Arg880Thr
NM_001126107.2:c.2636G>C	NP_001119579.2:p.Arg879Thr
NM_001126108.2:c.2612G>C MANE Select	NP_001119580.2:p.Arg871Thr