Canonical Allele Identifier: CA6059921
Gene: SLC22A8 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.62999835G>A
GRCh37 chr11:g.62767307G>A
Revel Score:
ENST00000336232 (MANE Select) 0.807
ENST00000540631 0.807
ENST00000545207 0.807
ENST00000535878 0.807
ENST00000311438 0.807
ENST00000430500 0.807
gnomAD v2:
11:62767307 G / A
gnomAD v3:
11:62999835 G / A
gnomAD v4:
chr11-62999835-G-A
Joint Max Group AF 0.00001254 (NFE)
Exomes Max Group AF 0.00001248 (NFE)
dbSNP:
45566039
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62999835G>A , CM000673.2:g.62999835G>A GRCh38
NC_000011.9:g.62767307G>A , CM000673.1:g.62767307G>A GRCh37
NC_000011.8:g.62523883G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.445C>T MANE Select ENSP00000337335.2:p.Arg149Cys
ENST00000311438.12:c.445C>T ENSP00000311463.8:p.Arg149Cys
ENST00000336232.6:c.445C>T ENSP00000337335.2:p.Arg149Cys
ENST00000430500.6:c.445C>T ENSP00000398548.2:p.Arg149Cys
ENST00000535878.5:c.76C>T ENSP00000443368.1:p.Arg26Cys
ENST00000542795.5:n.166C>T
ENST00000542904.1:n.285C>T
ENST00000545207.5:c.172C>T ENSP00000441658.1:p.Arg58Cys
NM_001184732.1:c.445C>T NP_001171661.1:p.Arg149Cys
NM_001184733.1:c.172C>T NP_001171662.1:p.Arg58Cys
NM_001184736.1:c.76C>T NP_001171665.1:p.Arg26Cys
NM_004254.3:c.445C>T NP_004245.2:p.Arg149Cys
XM_011545364.1:c.76C>T XP_011543666.1:p.Arg26Cys
NM_004254.4:c.445C>T MANE Select NP_004245.2:p.Arg149Cys
NM_001184732.2:c.445C>T NP_001171661.1:p.Arg149Cys
NM_001184733.2:c.172C>T NP_001171662.1:p.Arg58Cys
NM_001184736.2:c.76C>T NP_001171665.1:p.Arg26Cys
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