Canonical Allele Identifier: CA3749804
Gene: HLA-DPB1 HGNC NCBI
COSMIC:
COSN8514176 (not active)
MyVariant.info:
GRCh38 chr6:g.33086565T>A
GRCh37 chr6:g.33054342T>A
Revel Score:
ENST00000422592 0.016
gnomAD v2:
6:33054342 T / A
gnomAD v3:
6:33086565 T / A
gnomAD v4:
chr6-33086565-T-A
Joint Max Group AF 0.5185475 (AFR)
Genomes Max Group AF 0.61218759 (EAS)
Exomes Max Group AF 0.42764272 (EAS)
dbSNP:
1042448
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33086565T>A , CM000668.2:g.33086565T>A GRCh38
NC_000006.11:g.33054342T>A , CM000668.1:g.33054342T>A GRCh37
NC_000006.10:g.33162320T>A NCBI36
NG_033242.1:g.15640T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000418931.7:c.*31T>A MANE Select ENSP00000408146.2:n.*31T>A
ENST00000416804.1:c.725T>A
ENST00000418931.6:c.*31T>A ENSP00000408146.2:n.*31T>A
NM_002121.5:c.*31T>A NP_002112.3:n.*31T>A
XM_006715078.2:c.*31T>A XP_006715141.1:n.*31T>A
NM_002121.6:c.*31T>A MANE Select NP_002112.3:n.*31T>A
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