Canonical Allele Identifier: CA380982321
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62995799C>A , CM000673.2:g.62995799C>A GRCh38
NC_000011.9:g.62763271C>A , CM000673.1:g.62763271C>A GRCh37
NC_000011.8:g.62519847C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.906G>T MANE Select ENSP00000337335.2:p.Gln302His
ENST00000311438.12:c.906G>T ENSP00000311463.8:p.Gln302His
ENST00000336232.6:c.906G>T ENSP00000337335.2:p.Gln302His
ENST00000430500.6:c.906G>T ENSP00000398548.2:p.Gln302His
ENST00000535878.5:c.537G>T ENSP00000443368.1:p.Gln179His
ENST00000539841.1:n.933G>T
ENST00000545207.5:c.633G>T ENSP00000441658.1:p.Gln211His
NM_001184732.1:c.906G>T NP_001171661.1:p.Gln302His
NM_001184733.1:c.633G>T NP_001171662.1:p.Gln211His
NM_001184736.1:c.537G>T NP_001171665.1:p.Gln179His
NM_004254.3:c.906G>T NP_004245.2:p.Gln302His
XM_011545364.1:c.537G>T XP_011543666.1:p.Gln179His
NM_004254.4:c.906G>T MANE Select NP_004245.2:p.Gln302His
NM_001184732.2:c.906G>T NP_001171661.1:p.Gln302His
NM_001184733.2:c.633G>T NP_001171662.1:p.Gln211His
NM_001184736.2:c.537G>T NP_001171665.1:p.Gln179His