Canonical Allele Identifier: CA380982643

Gene: SLC22A8

Linked Data

• dbSNP Id: rs1401135032
• gnomAD v4: 11-62996079-C-T
• COSMIC: COSM226681
• MyVariant Identifiers: chr11:g.62763551C>T (hg19) ; chr11:g.62996079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62996079C>T , CM000673.2:g.62996079C>T	GRCh38
NC_000011.9:g.62763551C>T , CM000673.1:g.62763551C>T	GRCh37
NC_000011.8:g.62520127C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336232.7:c.835G>A MANE Select	ENSP00000337335.2:p.Val279Met
ENST00000311438.12:c.835G>A	ENSP00000311463.8:p.Val279Met
ENST00000336232.6:c.835G>A	ENSP00000337335.2:p.Val279Met
ENST00000430500.6:c.835G>A	ENSP00000398548.2:p.Val279Met
ENST00000535878.5:c.466G>A	ENSP00000443368.1:p.Val156Met
ENST00000539841.1:n.653G>A
ENST00000545207.5:c.562G>A	ENSP00000441658.1:p.Val188Met
NM_001184732.1:c.835G>A	NP_001171661.1:p.Val279Met
NM_001184733.1:c.562G>A	NP_001171662.1:p.Val188Met
NM_001184736.1:c.466G>A	NP_001171665.1:p.Val156Met
NM_004254.3:c.835G>A	NP_004245.2:p.Val279Met
XM_011545364.1:c.466G>A	XP_011543666.1:p.Val156Met
NM_004254.4:c.835G>A MANE Select	NP_004245.2:p.Val279Met
NM_001184732.2:c.835G>A	NP_001171661.1:p.Val279Met
NM_001184733.2:c.562G>A	NP_001171662.1:p.Val188Met
NM_001184736.2:c.466G>A	NP_001171665.1:p.Val156Met