Canonical Allele Identifier: CA380983950
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62998975C>G , CM000673.2:g.62998975C>G GRCh38
NC_000011.9:g.62766447C>G , CM000673.1:g.62766447C>G GRCh37
NC_000011.8:g.62523023C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000336232.7:c.707G>C MANE Select ENSP00000337335.2:p.Arg236Pro
ENST00000311438.12:c.707G>C ENSP00000311463.8:p.Arg236Pro
ENST00000336232.6:c.707G>C ENSP00000337335.2:p.Arg236Pro
ENST00000430500.6:c.707G>C ENSP00000398548.2:p.Arg236Pro
ENST00000535878.5:c.338G>C ENSP00000443368.1:p.Arg113Pro
ENST00000539841.1:n.525G>C
ENST00000542795.5:n.428G>C
ENST00000542904.1:n.547G>C
ENST00000545207.5:c.434G>C ENSP00000441658.1:p.Arg145Pro
NM_001184732.1:c.707G>C NP_001171661.1:p.Arg236Pro
NM_001184733.1:c.434G>C NP_001171662.1:p.Arg145Pro
NM_001184736.1:c.338G>C NP_001171665.1:p.Arg113Pro
NM_004254.3:c.707G>C NP_004245.2:p.Arg236Pro
XM_011545364.1:c.338G>C XP_011543666.1:p.Arg113Pro
NM_004254.4:c.707G>C MANE Select NP_004245.2:p.Arg236Pro
NM_001184732.2:c.707G>C NP_001171661.1:p.Arg236Pro
NM_001184733.2:c.434G>C NP_001171662.1:p.Arg145Pro
NM_001184736.2:c.338G>C NP_001171665.1:p.Arg113Pro