Canonical Allele Identifier: CA380982399
Gene: SLC22A8 HGNC NCBI

Linked Data

dbSNP Id: rs2086410830

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62995819C>G , CM000673.2:g.62995819C>G GRCh38
NC_000011.9:g.62763291C>G , CM000673.1:g.62763291C>G GRCh37
NC_000011.8:g.62519867C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.886G>C MANE Select ENSP00000337335.2:p.Glu296Gln
ENST00000311438.12:c.886G>C ENSP00000311463.8:p.Glu296Gln
ENST00000336232.6:c.886G>C ENSP00000337335.2:p.Glu296Gln
ENST00000430500.6:c.886G>C ENSP00000398548.2:p.Glu296Gln
ENST00000535878.5:c.517G>C ENSP00000443368.1:p.Glu173Gln
ENST00000539841.1:n.913G>C
ENST00000545207.5:c.613G>C ENSP00000441658.1:p.Glu205Gln
NM_001184732.1:c.886G>C NP_001171661.1:p.Glu296Gln
NM_001184733.1:c.613G>C NP_001171662.1:p.Glu205Gln
NM_001184736.1:c.517G>C NP_001171665.1:p.Glu173Gln
NM_004254.3:c.886G>C NP_004245.2:p.Glu296Gln
XM_011545364.1:c.517G>C XP_011543666.1:p.Glu173Gln
NM_004254.4:c.886G>C MANE Select NP_004245.2:p.Glu296Gln
NM_001184732.2:c.886G>C NP_001171661.1:p.Glu296Gln
NM_001184733.2:c.613G>C NP_001171662.1:p.Glu205Gln
NM_001184736.2:c.517G>C NP_001171665.1:p.Glu173Gln