Canonical Allele Identifier: CA380984417
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.608C>T MANE Select ENSP00000337335.2:p.Pro203Leu
ENST00000311438.12:c.608C>T ENSP00000311463.8:p.Pro203Leu
ENST00000336232.6:c.608C>T ENSP00000337335.2:p.Pro203Leu
ENST00000430500.6:c.608C>T ENSP00000398548.2:p.Pro203Leu
ENST00000535878.5:c.239C>T ENSP00000443368.1:p.Pro80Leu
ENST00000539841.1:n.426C>T
ENST00000542795.5:n.329C>T
ENST00000542904.1:n.448C>T
ENST00000545207.5:c.335C>T ENSP00000441658.1:p.Pro112Leu
NM_001184732.1:c.608C>T NP_001171661.1:p.Pro203Leu
NM_001184733.1:c.335C>T NP_001171662.1:p.Pro112Leu
NM_001184736.1:c.239C>T NP_001171665.1:p.Pro80Leu
NM_004254.3:c.608C>T NP_004245.2:p.Pro203Leu
XM_011545364.1:c.239C>T XP_011543666.1:p.Pro80Leu
NM_004254.4:c.608C>T MANE Select NP_004245.2:p.Pro203Leu
NM_001184732.2:c.608C>T NP_001171661.1:p.Pro203Leu
NM_001184733.2:c.335C>T NP_001171662.1:p.Pro112Leu
NM_001184736.2:c.239C>T NP_001171665.1:p.Pro80Leu