Canonical Allele Identifier: CA3741746
Gene: HLA-DRA HGNC NCBI
COSMIC:
COSM1443623 (not active)
MyVariant.info:
GRCh38 chr6:g.32443869T>G
GRCh37 chr6:g.32411646T>G
Revel Score:
ENST00000395388 (MANE Select) 0.011
ENST00000374982 0.011
gnomAD v2:
6:32411646 T / G
gnomAD v3:
6:32443869 T / G
gnomAD v4:
chr6-32443869-T-G
Joint Max Group AF 0.76150171 (SAS)
Genomes Max Group AF 0.7220145 (SAS)
Exomes Max Group AF 0.76271509 (SAS)
dbSNP:
7192
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32443869T>G , CM000668.2:g.32443869T>G GRCh38
NC_000006.11:g.32411646T>G , CM000668.1:g.32411646T>G GRCh37
NC_000006.10:g.32519624T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395388.7:c.724T>G MANE Select ENSP00000378786.2:p.Leu242Val
ENST00000374982.5:c.649T>G ENSP00000364121.5:p.Leu217Val
ENST00000395388.6:c.724T>G ENSP00000378786.2:p.Leu242Val
NM_019111.4:c.724T>G NP_061984.2:p.Leu242Val
NM_019111.5:c.724T>G MANE Select NP_061984.2:p.Leu242Val
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