Canonical Allele Identifier: CA6059856

Gene: SLC22A8

Linked Data

• dbSNP Id: rs569033748
• ExAC: 11:62766446 A / G
• gnomAD v2: 11-62766446-A-G
• gnomAD v3: 11-62998974-A-G
• gnomAD v4: 11-62998974-A-G
• MyVariant Identifiers: chr11:g.62766446A>G (hg19) ; chr11:g.62998974A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62998974A>G , CM000673.2:g.62998974A>G	GRCh38
NC_000011.9:g.62766446A>G , CM000673.1:g.62766446A>G	GRCh37
NC_000011.8:g.62523022A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000336232.7:c.708T>C MANE Select	ENSP00000337335.2:p.Arg236=
ENST00000311438.12:c.708T>C	ENSP00000311463.8:p.Arg236=
ENST00000336232.6:c.708T>C	ENSP00000337335.2:p.Arg236=
ENST00000430500.6:c.708T>C	ENSP00000398548.2:p.Arg236=
ENST00000535878.5:c.339T>C	ENSP00000443368.1:p.Arg113=
ENST00000539841.1:n.526T>C
ENST00000542795.5:n.429T>C
ENST00000542904.1:n.548T>C
ENST00000545207.5:c.435T>C	ENSP00000441658.1:p.Arg145=
NM_001184732.1:c.708T>C	NP_001171661.1:p.Arg236=
NM_001184733.1:c.435T>C	NP_001171662.1:p.Arg145=
NM_001184736.1:c.339T>C	NP_001171665.1:p.Arg113=
NM_004254.3:c.708T>C	NP_004245.2:p.Arg236=
XM_011545364.1:c.339T>C	XP_011543666.1:p.Arg113=
NM_004254.4:c.708T>C MANE Select	NP_004245.2:p.Arg236=
NM_001184732.2:c.708T>C	NP_001171661.1:p.Arg236=
NM_001184733.2:c.435T>C	NP_001171662.1:p.Arg145=
NM_001184736.2:c.339T>C	NP_001171665.1:p.Arg113=