Canonical Allele Identifier: CA380982127
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62995758T>G , CM000673.2:g.62995758T>G GRCh38
NC_000011.9:g.62763230T>G , CM000673.1:g.62763230T>G GRCh37
NC_000011.8:g.62519806T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.947A>C MANE Select ENSP00000337335.2:p.Asp316Ala
ENST00000311438.12:c.947A>C ENSP00000311463.8:p.Asp316Ala
ENST00000336232.6:c.947A>C ENSP00000337335.2:p.Asp316Ala
ENST00000430500.6:c.947A>C ENSP00000398548.2:p.Asp316Ala
ENST00000535878.5:c.578A>C ENSP00000443368.1:p.Asp193Ala
ENST00000539841.1:n.974A>C
ENST00000545207.5:c.674A>C ENSP00000441658.1:p.Asp225Ala
NM_001184732.1:c.947A>C NP_001171661.1:p.Asp316Ala
NM_001184733.1:c.674A>C NP_001171662.1:p.Asp225Ala
NM_001184736.1:c.578A>C NP_001171665.1:p.Asp193Ala
NM_004254.3:c.947A>C NP_004245.2:p.Asp316Ala
XM_011545364.1:c.578A>C XP_011543666.1:p.Asp193Ala
NM_004254.4:c.947A>C MANE Select NP_004245.2:p.Asp316Ala
NM_001184732.2:c.947A>C NP_001171661.1:p.Asp316Ala
NM_001184733.2:c.674A>C NP_001171662.1:p.Asp225Ala
NM_001184736.2:c.578A>C NP_001171665.1:p.Asp193Ala