Canonical Allele Identifier: CA396002450

Gene: SLC12A3

Linked Data

• dbSNP Id: rs186979818
• gnomAD v3: 16-56904441-G-C
• gnomAD v4: 16-56904441-G-C
• MyVariant Identifiers: chr16:g.56938353G>C (hg19) ; chr16:g.56904441G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904441G>C , CM000678.2:g.56904441G>C	GRCh38
NC_000016.9:g.56938353G>C , CM000678.1:g.56938353G>C	GRCh37
NC_000016.8:g.55495854G>C	NCBI36
NG_009386.1:g.44235G>C
NG_009386.2:g.44235G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2903G>C MANE Select	ENSP00000456149.2:p.Arg968Pro
ENST00000262502.5:c.2900G>C	ENSP00000262502.5:p.Arg967Pro
ENST00000438926.6:c.2930G>C	ENSP00000402152.2:p.Arg977Pro
ENST00000563236.5:c.2903G>C	ENSP00000456149.1:p.Arg968Pro
ENST00000566786.5:c.2927G>C	ENSP00000457552.1:p.Arg976Pro
ENST00000569002.1:n.334G>C
NM_000339.2:c.2930G>C	NP_000330.2:p.Arg977Pro
NM_001126107.1:c.2927G>C	NP_001119579.1:p.Arg976Pro
NM_001126108.1:c.2903G>C	NP_001119580.1:p.Arg968Pro
XM_005256119.1:c.2900G>C	XP_005256176.1:p.Arg967Pro
XM_005256119.2:c.2900G>C	XP_005256176.1:p.Arg967Pro
NM_000339.3:c.2930G>C	NP_000330.3:p.Arg977Pro
NM_001126107.2:c.2927G>C	NP_001119579.2:p.Arg976Pro
NM_001126108.2:c.2903G>C MANE Select	NP_001119580.2:p.Arg968Pro