Canonical Allele Identifier: CA396001207

Gene: SLC12A3

Linked Data

• MyVariant Identifiers: chr16:g.56936328G>C (hg19) ; chr16:g.56902416G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902416G>C , CM000678.2:g.56902416G>C	GRCh38
NC_000016.9:g.56936328G>C , CM000678.1:g.56936328G>C	GRCh37
NC_000016.8:g.55493829G>C	NCBI36
NG_009386.1:g.42210G>C
NG_009386.2:g.42210G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2764G>C MANE Select	ENSP00000456149.2:p.Asp922His
ENST00000262502.5:c.2761G>C	ENSP00000262502.5:p.Asp921His
ENST00000438926.6:c.2791G>C	ENSP00000402152.2:p.Asp931His
ENST00000563236.5:c.2764G>C	ENSP00000456149.1:p.Asp922His
ENST00000566786.5:c.2788G>C	ENSP00000457552.1:p.Asp930His
ENST00000569002.1:n.195G>C
NM_000339.2:c.2791G>C	NP_000330.2:p.Asp931His
NM_001126107.1:c.2788G>C	NP_001119579.1:p.Asp930His
NM_001126108.1:c.2764G>C	NP_001119580.1:p.Asp922His
XM_005256119.1:c.2761G>C	XP_005256176.1:p.Asp921His
XM_005256119.2:c.2761G>C	XP_005256176.1:p.Asp921His
NM_000339.3:c.2791G>C	NP_000330.3:p.Asp931His
NM_001126107.2:c.2788G>C	NP_001119579.2:p.Asp930His
NM_001126108.2:c.2764G>C MANE Select	NP_001119580.2:p.Asp922His