Canonical Allele Identifier: CA380982697
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62996097G>C , CM000673.2:g.62996097G>C GRCh38
NC_000011.9:g.62763569G>C , CM000673.1:g.62763569G>C GRCh37
NC_000011.8:g.62520145G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.817C>G MANE Select ENSP00000337335.2:p.Leu273Val
ENST00000311438.12:c.817C>G ENSP00000311463.8:p.Leu273Val
ENST00000336232.6:c.817C>G ENSP00000337335.2:p.Leu273Val
ENST00000430500.6:c.817C>G ENSP00000398548.2:p.Leu273Val
ENST00000535878.5:c.448C>G ENSP00000443368.1:p.Leu150Val
ENST00000539841.1:n.635C>G
ENST00000542795.5:n.538C>G
ENST00000545207.5:c.544C>G ENSP00000441658.1:p.Leu182Val
NM_001184732.1:c.817C>G NP_001171661.1:p.Leu273Val
NM_001184733.1:c.544C>G NP_001171662.1:p.Leu182Val
NM_001184736.1:c.448C>G NP_001171665.1:p.Leu150Val
NM_004254.3:c.817C>G NP_004245.2:p.Leu273Val
XM_011545364.1:c.448C>G XP_011543666.1:p.Leu150Val
NM_004254.4:c.817C>G MANE Select NP_004245.2:p.Leu273Val
NM_001184732.2:c.817C>G NP_001171661.1:p.Leu273Val
NM_001184733.2:c.544C>G NP_001171662.1:p.Leu182Val
NM_001184736.2:c.448C>G NP_001171665.1:p.Leu150Val