Canonical Allele Identifier: CA380983935
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62998972C>A , CM000673.2:g.62998972C>A GRCh38
NC_000011.9:g.62766444C>A , CM000673.1:g.62766444C>A GRCh37
NC_000011.8:g.62523020C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000336232.7:c.710G>T MANE Select ENSP00000337335.2:p.Trp237Leu
ENST00000311438.12:c.710G>T ENSP00000311463.8:p.Trp237Leu
ENST00000336232.6:c.710G>T ENSP00000337335.2:p.Trp237Leu
ENST00000430500.6:c.710G>T ENSP00000398548.2:p.Trp237Leu
ENST00000535878.5:c.341G>T ENSP00000443368.1:p.Trp114Leu
ENST00000539841.1:n.528G>T
ENST00000542795.5:n.431G>T
ENST00000542904.1:n.550G>T
ENST00000545207.5:c.437G>T ENSP00000441658.1:p.Trp146Leu
NM_001184732.1:c.710G>T NP_001171661.1:p.Trp237Leu
NM_001184733.1:c.437G>T NP_001171662.1:p.Trp146Leu
NM_001184736.1:c.341G>T NP_001171665.1:p.Trp114Leu
NM_004254.3:c.710G>T NP_004245.2:p.Trp237Leu
XM_011545364.1:c.341G>T XP_011543666.1:p.Trp114Leu
NM_004254.4:c.710G>T MANE Select NP_004245.2:p.Trp237Leu
NM_001184732.2:c.710G>T NP_001171661.1:p.Trp237Leu
NM_001184733.2:c.437G>T NP_001171662.1:p.Trp146Leu
NM_001184736.2:c.341G>T NP_001171665.1:p.Trp114Leu