Canonical Allele Identifier: CA380982468
Gene: SLC22A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62996034A>C , CM000673.2:g.62996034A>C GRCh38
NC_000011.9:g.62763506A>C , CM000673.1:g.62763506A>C GRCh37
NC_000011.8:g.62520082A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.880T>G MANE Select ENSP00000337335.2:p.Leu294Val
ENST00000311438.12:c.880T>G ENSP00000311463.8:p.Leu294Val
ENST00000336232.6:c.880T>G ENSP00000337335.2:p.Leu294Val
ENST00000430500.6:c.880T>G ENSP00000398548.2:p.Leu294Val
ENST00000535878.5:c.511T>G ENSP00000443368.1:p.Leu171Val
ENST00000539841.1:n.698T>G
ENST00000545207.5:c.607T>G ENSP00000441658.1:p.Leu203Val
NM_001184732.1:c.880T>G NP_001171661.1:p.Leu294Val
NM_001184733.1:c.607T>G NP_001171662.1:p.Leu203Val
NM_001184736.1:c.511T>G NP_001171665.1:p.Leu171Val
NM_004254.3:c.880T>G NP_004245.2:p.Leu294Val
XM_011545364.1:c.511T>G XP_011543666.1:p.Leu171Val
NM_004254.4:c.880T>G MANE Select NP_004245.2:p.Leu294Val
NM_001184732.2:c.880T>G NP_001171661.1:p.Leu294Val
NM_001184733.2:c.607T>G NP_001171662.1:p.Leu203Val
NM_001184736.2:c.511T>G NP_001171665.1:p.Leu171Val