Canonical Allele Identifier: CA380983866
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62998958C>T , CM000673.2:g.62998958C>T GRCh38
NC_000011.9:g.62766430C>T , CM000673.1:g.62766430C>T GRCh37
NC_000011.8:g.62523006C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.724G>A MANE Select ENSP00000337335.2:p.Val242Met
ENST00000311438.12:c.724G>A ENSP00000311463.8:p.Val242Met
ENST00000336232.6:c.724G>A ENSP00000337335.2:p.Val242Met
ENST00000430500.6:c.724G>A ENSP00000398548.2:p.Val242Met
ENST00000535878.5:c.355G>A ENSP00000443368.1:p.Val119Met
ENST00000539841.1:n.542G>A
ENST00000542795.5:n.445G>A
ENST00000542904.1:n.564G>A
ENST00000545207.5:c.451G>A ENSP00000441658.1:p.Val151Met
NM_001184732.1:c.724G>A NP_001171661.1:p.Val242Met
NM_001184733.1:c.451G>A NP_001171662.1:p.Val151Met
NM_001184736.1:c.355G>A NP_001171665.1:p.Val119Met
NM_004254.3:c.724G>A NP_004245.2:p.Val242Met
XM_011545364.1:c.355G>A XP_011543666.1:p.Val119Met
NM_004254.4:c.724G>A MANE Select NP_004245.2:p.Val242Met
NM_001184732.2:c.724G>A NP_001171661.1:p.Val242Met
NM_001184733.2:c.451G>A NP_001171662.1:p.Val151Met
NM_001184736.2:c.355G>A NP_001171665.1:p.Val119Met