Canonical Allele Identifier: CA380982332

Gene: SLC22A8

Linked Data

• dbSNP Id: rs2086410392
• gnomAD v3: 11-62995801-G-A
• gnomAD v4: 11-62995801-G-A
• MyVariant Identifiers: chr11:g.62763273G>A (hg19) ; chr11:g.62995801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62995801G>A , CM000673.2:g.62995801G>A	GRCh38
NC_000011.9:g.62763273G>A , CM000673.1:g.62763273G>A	GRCh37
NC_000011.8:g.62519849G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336232.7:c.904C>T MANE Select	ENSP00000337335.2:p.Gln302Ter
ENST00000311438.12:c.904C>T	ENSP00000311463.8:p.Gln302Ter
ENST00000336232.6:c.904C>T	ENSP00000337335.2:p.Gln302Ter
ENST00000430500.6:c.904C>T	ENSP00000398548.2:p.Gln302Ter
ENST00000535878.5:c.535C>T	ENSP00000443368.1:p.Gln179Ter
ENST00000539841.1:n.931C>T
ENST00000545207.5:c.631C>T	ENSP00000441658.1:p.Gln211Ter
NM_001184732.1:c.904C>T	NP_001171661.1:p.Gln302Ter
NM_001184733.1:c.631C>T	NP_001171662.1:p.Gln211Ter
NM_001184736.1:c.535C>T	NP_001171665.1:p.Gln179Ter
NM_004254.3:c.904C>T	NP_004245.2:p.Gln302Ter
XM_011545364.1:c.535C>T	XP_011543666.1:p.Gln179Ter
NM_004254.4:c.904C>T MANE Select	NP_004245.2:p.Gln302Ter
NM_001184732.2:c.904C>T	NP_001171661.1:p.Gln302Ter
NM_001184733.2:c.631C>T	NP_001171662.1:p.Gln211Ter
NM_001184736.2:c.535C>T	NP_001171665.1:p.Gln179Ter