Canonical Allele Identifier: CA3743584
Gene: HLA-DRB1 HGNC NCBI
COSMIC:
COSM4160983 (not active)
MyVariant.info:
GRCh38 chr6:g.32589729T>C
GRCh37 chr6:g.32557506T>C
Revel Score:
ENST00000360004 (MANE Select) 0.092
gnomAD v2:
6:32557506 T / C
gnomAD v3:
6:32589729 T / C
gnomAD v4:
chr6-32589729-T-C
Joint Max Group AF 0.33537169 (AMR)
Genomes Max Group AF 0.21395604 (AFR)
Exomes Max Group AF 0.35651473 (AMR)
dbSNP:
707953
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32589729T>C , CM000668.2:g.32589729T>C GRCh38
NC_000006.11:g.32557506T>C , CM000668.1:g.32557506T>C GRCh37
NC_000006.10:g.32665484T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360004.6:c.14A>G MANE Select ENSP00000353099.5:p.Lys5Arg
ENST00000696610.1:c.14A>G ENSP00000512754.1:p.Lys5Arg
ENST00000696612.1:n.77A>G
ENST00000360004.5:c.14A>G ENSP00000353099.5:p.Lys5Arg
ENST00000611060.4:c.14A>G ENSP00000480667.1:p.Lys5Arg
NM_002124.3:c.14A>G NP_002115.2:p.Lys5Arg
NM_002124.4:c.14A>G MANE Select NP_002115.2:p.Lys5Arg
Search 100 bp 5'
Search 100 bp 3'