Canonical Allele Identifier: CA3749368
Gene: HLA-DPA1 HGNC NCBI
COSMIC:
COSM3761977 (not active)
MyVariant.info:
GRCh38 chr6:g.33069745T>C
GRCh37 chr6:g.33037522T>C
Revel Score:
ENST00000419277 0.048
ENST00000428995 0.048
ENST00000448544 0.048
ENST00000453337 0.048
gnomAD v2:
6:33037522 T / C
gnomAD v3:
6:33069745 T / C
gnomAD v4:
chr6-33069745-T-C
Joint Max Group AF 0.63545127 (EAS)
Genomes Max Group AF 0.66986664 (EAS)
Exomes Max Group AF 0.62896112 (EAS)
dbSNP:
1042178
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33069745T>C , CM000668.2:g.33069745T>C GRCh38
NC_000006.11:g.33037522T>C , CM000668.1:g.33037522T>C GRCh37
NC_000006.10:g.33145500T>C NCBI36
NG_033241.1:g.16034A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000692443.1:c.242A>G MANE Select ENSP00000509163.1:p.Gln81Arg
ENST00000419277.5:c.242A>G ENSP00000393566.1:p.Gln81Arg
ENST00000453337.1:c.242A>G ENSP00000390929.1:p.Gln81Arg
ENST00000463066.1:n.337A>G
ENST00000476642.5:n.218A>G
ENST00000479107.1:n.287A>G
NM_001242524.1:c.242A>G NP_001229453.1:p.Gln81Arg
NM_001242525.1:c.242A>G NP_001229454.1:p.Gln81Arg
NM_033554.3:c.242A>G NP_291032.2:p.Gln81Arg
XM_011514559.1:c.242A>G XP_011512861.1:p.Gln81Arg
NM_001242524.2:c.242A>G NP_001229453.1:p.Gln81Arg
NM_001242525.2:c.242A>G NP_001229454.1:p.Gln81Arg
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