Canonical Allele Identifier: CA380982457

Gene: SLC22A8

Linked Data

• dbSNP Id: rs755101043
• gnomAD v2: 11-62763503-C-G
• gnomAD v4: 11-62996031-C-G
• MyVariant Identifiers: chr11:g.62763503C>G (hg19) ; chr11:g.62996031C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62996031C>G , CM000673.2:g.62996031C>G	GRCh38
NC_000011.9:g.62763503C>G , CM000673.1:g.62763503C>G	GRCh37
NC_000011.8:g.62520079C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336232.7:c.883G>C MANE Select	ENSP00000337335.2:p.Glu295Gln
ENST00000311438.12:c.883G>C	ENSP00000311463.8:p.Glu295Gln
ENST00000336232.6:c.883G>C	ENSP00000337335.2:p.Glu295Gln
ENST00000430500.6:c.883G>C	ENSP00000398548.2:p.Glu295Gln
ENST00000535878.5:c.514G>C	ENSP00000443368.1:p.Glu172Gln
ENST00000539841.1:n.701G>C
ENST00000545207.5:c.610G>C	ENSP00000441658.1:p.Glu204Gln
NM_001184732.1:c.883G>C	NP_001171661.1:p.Glu295Gln
NM_001184733.1:c.610G>C	NP_001171662.1:p.Glu204Gln
NM_001184736.1:c.514G>C	NP_001171665.1:p.Glu172Gln
NM_004254.3:c.883G>C	NP_004245.2:p.Glu295Gln
XM_011545364.1:c.514G>C	XP_011543666.1:p.Glu172Gln
NM_004254.4:c.883G>C MANE Select	NP_004245.2:p.Glu295Gln
NM_001184732.2:c.883G>C	NP_001171661.1:p.Glu295Gln
NM_001184733.2:c.610G>C	NP_001171662.1:p.Glu204Gln
NM_001184736.2:c.514G>C	NP_001171665.1:p.Glu172Gln