Canonical Allele Identifier: CA380983910
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62998967G>C , CM000673.2:g.62998967G>C GRCh38
NC_000011.9:g.62766439G>C , CM000673.1:g.62766439G>C GRCh37
NC_000011.8:g.62523015G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000336232.7:c.715C>G MANE Select ENSP00000337335.2:p.Gln239Glu
ENST00000311438.12:c.715C>G ENSP00000311463.8:p.Gln239Glu
ENST00000336232.6:c.715C>G ENSP00000337335.2:p.Gln239Glu
ENST00000430500.6:c.715C>G ENSP00000398548.2:p.Gln239Glu
ENST00000535878.5:c.346C>G ENSP00000443368.1:p.Gln116Glu
ENST00000539841.1:n.533C>G
ENST00000542795.5:n.436C>G
ENST00000542904.1:n.555C>G
ENST00000545207.5:c.442C>G ENSP00000441658.1:p.Gln148Glu
NM_001184732.1:c.715C>G NP_001171661.1:p.Gln239Glu
NM_001184733.1:c.442C>G NP_001171662.1:p.Gln148Glu
NM_001184736.1:c.346C>G NP_001171665.1:p.Gln116Glu
NM_004254.3:c.715C>G NP_004245.2:p.Gln239Glu
XM_011545364.1:c.346C>G XP_011543666.1:p.Gln116Glu
NM_004254.4:c.715C>G MANE Select NP_004245.2:p.Gln239Glu
NM_001184732.2:c.715C>G NP_001171661.1:p.Gln239Glu
NM_001184733.2:c.442C>G NP_001171662.1:p.Gln148Glu
NM_001184736.2:c.346C>G NP_001171665.1:p.Gln116Glu