Canonical Allele Identifier: CA475140880
Gene: SLC22A8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.62763599A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62996127A>G , CM000673.2:g.62996127A>G GRCh38
NC_000011.9:g.62763599A>G , CM000673.1:g.62763599A>G GRCh37
NC_000011.8:g.62520175A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.787T>C MANE Select ENSP00000337335.2:p.Leu263=
ENST00000311438.12:c.787T>C ENSP00000311463.8:p.Leu263=
ENST00000336232.6:c.787T>C ENSP00000337335.2:p.Leu263=
ENST00000430500.6:c.787T>C ENSP00000398548.2:p.Leu263=
ENST00000535878.5:c.418T>C ENSP00000443368.1:p.Leu140=
ENST00000539841.1:n.605T>C
ENST00000542795.5:n.508T>C
ENST00000542904.1:n.627T>C
ENST00000545207.5:c.514T>C ENSP00000441658.1:p.Leu172=
NM_001184732.1:c.787T>C NP_001171661.1:p.Leu263=
NM_001184733.1:c.514T>C NP_001171662.1:p.Leu172=
NM_001184736.1:c.418T>C NP_001171665.1:p.Leu140=
NM_004254.3:c.787T>C NP_004245.2:p.Leu263=
XM_011545364.1:c.418T>C XP_011543666.1:p.Leu140=
NM_004254.4:c.787T>C MANE Select NP_004245.2:p.Leu263=
NM_001184732.2:c.787T>C NP_001171661.1:p.Leu263=
NM_001184733.2:c.514T>C NP_001171662.1:p.Leu172=
NM_001184736.2:c.418T>C NP_001171665.1:p.Leu140=