Canonical Allele Identifier: CA3743675
Gene: HLA-DQA1 HGNC NCBI
COSMIC:
COSM5424566
dbSNP:
12722042
gnomAD v2:
6:32605309 A / G
gnomAD v3:
6:32637532 A / G
gnomAD v4:
chr6-32637532-A-G
Joint Max Group AF 0.1844751 (SAS)
Genomes Max Group AF 0.18664012 (SAS)
Exomes Max Group AF 0.18385965 (SAS)
MyVariant.info:
GRCh38 chr6:g.32637532A>G
GRCh37 chr6:g.32605309A>G
Revel Score:
ENST00000343139 (MANE Select) 0.123
ENST00000395364 0.123
ENST00000395363 0.123
ENST00000496318 0.123
ENST00000374949 0.123
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32637532A>G , CM000668.2:g.32637532A>G GRCh38
NC_000006.11:g.32605309A>G , CM000668.1:g.32605309A>G GRCh37
NC_000006.10:g.32713287A>G NCBI36
NG_032876.1:g.5127A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343139.11:c.74A>G MANE Select ENSP00000339398.5:p.Asp25Gly
ENST00000343139.9:c.74A>G ENSP00000339398.5:p.Asp25Gly
ENST00000374949.2:c.74A>G ENSP00000364087.2:p.Asp25Gly
ENST00000395363.5:c.74A>G ENSP00000378767.1:p.Asp25Gly
ENST00000460633.1:n.102A>G
ENST00000482745.5:c.74A>G ENSP00000436546.1:p.Asp25Gly
ENST00000496318.5:c.74A>G ENSP00000437302.1:p.Asp25Gly
NM_002122.3:c.74A>G NP_002113.2:p.Asp25Gly
XM_006715079.2:c.74A>G XP_006715142.1:p.Asp25Gly
XM_006715079.4:c.74A>G XP_006715142.1:p.Asp25Gly
XR_001744085.1:n.3036T>C
NM_002122.5:c.74A>G MANE Select NP_002113.2:p.Asp25Gly
Search 100 bp 5'
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