Canonical Allele Identifier: CA380982693
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62996096A>T , CM000673.2:g.62996096A>T GRCh38
NC_000011.9:g.62763568A>T , CM000673.1:g.62763568A>T GRCh37
NC_000011.8:g.62520144A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.818T>A MANE Select ENSP00000337335.2:p.Leu273Gln
ENST00000311438.12:c.818T>A ENSP00000311463.8:p.Leu273Gln
ENST00000336232.6:c.818T>A ENSP00000337335.2:p.Leu273Gln
ENST00000430500.6:c.818T>A ENSP00000398548.2:p.Leu273Gln
ENST00000535878.5:c.449T>A ENSP00000443368.1:p.Leu150Gln
ENST00000539841.1:n.636T>A
ENST00000542795.5:n.539T>A
ENST00000545207.5:c.545T>A ENSP00000441658.1:p.Leu182Gln
NM_001184732.1:c.818T>A NP_001171661.1:p.Leu273Gln
NM_001184733.1:c.545T>A NP_001171662.1:p.Leu182Gln
NM_001184736.1:c.449T>A NP_001171665.1:p.Leu150Gln
NM_004254.3:c.818T>A NP_004245.2:p.Leu273Gln
XM_011545364.1:c.449T>A XP_011543666.1:p.Leu150Gln
NM_004254.4:c.818T>A MANE Select NP_004245.2:p.Leu273Gln
NM_001184732.2:c.818T>A NP_001171661.1:p.Leu273Gln
NM_001184733.2:c.545T>A NP_001171662.1:p.Leu182Gln
NM_001184736.2:c.449T>A NP_001171665.1:p.Leu150Gln