Canonical Allele Identifier: CA3743416
Gene: HLA-DRB1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32584361G>A
GRCh37 chr6:g.32552138G>A
Revel Score:
ENST00000360004 (MANE Select) 0.034
gnomAD v2:
6:32552138 G / A
gnomAD v3:
6:32584361 G / A
gnomAD v4:
chr6-32584361-G-A
Joint Max Group AF 0.0002751 (AMR)
Genomes Max Group AF 0.00011804 (AMR)
Exomes Max Group AF 0.00026088 (AMR)
dbSNP:
9269955
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32584361G>A , CM000668.2:g.32584361G>A GRCh38
NC_000006.11:g.32552138G>A , CM000668.1:g.32552138G>A GRCh37
NC_000006.10:g.32660116G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360004.6:c.118C>T MANE Select ENSP00000353099.5:p.Pro40Ser
ENST00000696610.1:c.*23C>T ENSP00000512754.1:n.*23C>T
ENST00000696611.1:n.41C>T
ENST00000696612.1:n.181C>T
ENST00000696613.1:n.96C>T
ENST00000696614.1:n.246C>T
ENST00000360004.5:c.118C>T ENSP00000353099.5:p.Pro40Ser
ENST00000611060.4:c.118C>T ENSP00000480667.1:p.Pro40Ser
NM_002124.3:c.118C>T NP_002115.2:p.Pro40Ser
NM_002124.4:c.118C>T MANE Select NP_002115.2:p.Pro40Ser
Search 100 bp 5'
Search 100 bp 3'