Canonical Allele Identifier: CA380982250
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62995780T>C , CM000673.2:g.62995780T>C GRCh38
NC_000011.9:g.62763252T>C , CM000673.1:g.62763252T>C GRCh37
NC_000011.8:g.62519828T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.925A>G MANE Select ENSP00000337335.2:p.Lys309Glu
ENST00000311438.12:c.925A>G ENSP00000311463.8:p.Lys309Glu
ENST00000336232.6:c.925A>G ENSP00000337335.2:p.Lys309Glu
ENST00000430500.6:c.925A>G ENSP00000398548.2:p.Lys309Glu
ENST00000535878.5:c.556A>G ENSP00000443368.1:p.Lys186Glu
ENST00000539841.1:n.952A>G
ENST00000545207.5:c.652A>G ENSP00000441658.1:p.Lys218Glu
NM_001184732.1:c.925A>G NP_001171661.1:p.Lys309Glu
NM_001184733.1:c.652A>G NP_001171662.1:p.Lys218Glu
NM_001184736.1:c.556A>G NP_001171665.1:p.Lys186Glu
NM_004254.3:c.925A>G NP_004245.2:p.Lys309Glu
XM_011545364.1:c.556A>G XP_011543666.1:p.Lys186Glu
NM_004254.4:c.925A>G MANE Select NP_004245.2:p.Lys309Glu
NM_001184732.2:c.925A>G NP_001171661.1:p.Lys309Glu
NM_001184733.2:c.652A>G NP_001171662.1:p.Lys218Glu
NM_001184736.2:c.556A>G NP_001171665.1:p.Lys186Glu