Canonical Allele Identifier: CA566411039
Gene: HLA-DPB1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.33086565T>C
GRCh37 chr6:g.33054342T>C
Revel Score:
ENST00000422592 0.015
gnomAD v2:
6:33054342 T / C
gnomAD v4:
chr6-33086565-T-C
Joint Max Group AF 0.0000025 (NFE)
Exomes Max Group AF 0.00000318 (NFE)
dbSNP:
1042448
JSON-LD

Genomic Alleles

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

Transcript Alleles

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