Canonical Allele Identifier: CA380982811
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62996141T>G , CM000673.2:g.62996141T>G GRCh38
NC_000011.9:g.62763613T>G , CM000673.1:g.62763613T>G GRCh37
NC_000011.8:g.62520189T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.773A>C MANE Select ENSP00000337335.2:p.Glu258Ala
ENST00000311438.12:c.773A>C ENSP00000311463.8:p.Glu258Ala
ENST00000336232.6:c.773A>C ENSP00000337335.2:p.Glu258Ala
ENST00000430500.6:c.773A>C ENSP00000398548.2:p.Glu258Ala
ENST00000535878.5:c.404A>C ENSP00000443368.1:p.Glu135Ala
ENST00000539841.1:n.591A>C
ENST00000542795.5:n.494A>C
ENST00000542904.1:n.613A>C
ENST00000545207.5:c.500A>C ENSP00000441658.1:p.Glu167Ala
NM_001184732.1:c.773A>C NP_001171661.1:p.Glu258Ala
NM_001184733.1:c.500A>C NP_001171662.1:p.Glu167Ala
NM_001184736.1:c.404A>C NP_001171665.1:p.Glu135Ala
NM_004254.3:c.773A>C NP_004245.2:p.Glu258Ala
XM_011545364.1:c.404A>C XP_011543666.1:p.Glu135Ala
NM_004254.4:c.773A>C MANE Select NP_004245.2:p.Glu258Ala
NM_001184732.2:c.773A>C NP_001171661.1:p.Glu258Ala
NM_001184733.2:c.500A>C NP_001171662.1:p.Glu167Ala
NM_001184736.2:c.404A>C NP_001171665.1:p.Glu135Ala