Canonical Allele Identifier: CA223623896

Gene: SLC22A8

Linked Data

• dbSNP Id: rs1038129861
• gnomAD v2: 11-62763553-C-T
• gnomAD v3: 11-62996081-C-T
• gnomAD v4: 11-62996081-C-T
• MyVariant Identifiers: chr11:g.62763553C>T (hg19) ; chr11:g.62996081C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62996081C>T , CM000673.2:g.62996081C>T	GRCh38
NC_000011.9:g.62763553C>T , CM000673.1:g.62763553C>T	GRCh37
NC_000011.8:g.62520129C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336232.7:c.833G>A MANE Select	ENSP00000337335.2:p.Arg278Gln
ENST00000311438.12:c.833G>A	ENSP00000311463.8:p.Arg278Gln
ENST00000336232.6:c.833G>A	ENSP00000337335.2:p.Arg278Gln
ENST00000430500.6:c.833G>A	ENSP00000398548.2:p.Arg278Gln
ENST00000535878.5:c.464G>A	ENSP00000443368.1:p.Arg155Gln
ENST00000539841.1:n.651G>A
ENST00000545207.5:c.560G>A	ENSP00000441658.1:p.Arg187Gln
NM_001184732.1:c.833G>A	NP_001171661.1:p.Arg278Gln
NM_001184733.1:c.560G>A	NP_001171662.1:p.Arg187Gln
NM_001184736.1:c.464G>A	NP_001171665.1:p.Arg155Gln
NM_004254.3:c.833G>A	NP_004245.2:p.Arg278Gln
XM_011545364.1:c.464G>A	XP_011543666.1:p.Arg155Gln
NM_004254.4:c.833G>A MANE Select	NP_004245.2:p.Arg278Gln
NM_001184732.2:c.833G>A	NP_001171661.1:p.Arg278Gln
NM_001184733.2:c.560G>A	NP_001171662.1:p.Arg187Gln
NM_001184736.2:c.464G>A	NP_001171665.1:p.Arg155Gln