Canonical Allele Identifier: CA380984421
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62999074G>T , CM000673.2:g.62999074G>T GRCh38
NC_000011.9:g.62766546G>T , CM000673.1:g.62766546G>T GRCh37
NC_000011.8:g.62523122G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.608C>A MANE Select ENSP00000337335.2:p.Pro203His
ENST00000311438.12:c.608C>A ENSP00000311463.8:p.Pro203His
ENST00000336232.6:c.608C>A ENSP00000337335.2:p.Pro203His
ENST00000430500.6:c.608C>A ENSP00000398548.2:p.Pro203His
ENST00000535878.5:c.239C>A ENSP00000443368.1:p.Pro80His
ENST00000539841.1:n.426C>A
ENST00000542795.5:n.329C>A
ENST00000542904.1:n.448C>A
ENST00000545207.5:c.335C>A ENSP00000441658.1:p.Pro112His
NM_001184732.1:c.608C>A NP_001171661.1:p.Pro203His
NM_001184733.1:c.335C>A NP_001171662.1:p.Pro112His
NM_001184736.1:c.239C>A NP_001171665.1:p.Pro80His
NM_004254.3:c.608C>A NP_004245.2:p.Pro203His
XM_011545364.1:c.239C>A XP_011543666.1:p.Pro80His
NM_004254.4:c.608C>A MANE Select NP_004245.2:p.Pro203His
NM_001184732.2:c.608C>A NP_001171661.1:p.Pro203His
NM_001184733.2:c.335C>A NP_001171662.1:p.Pro112His
NM_001184736.2:c.239C>A NP_001171665.1:p.Pro80His