Canonical Allele Identifier: CA3743744
Gene: HLA-DQA1 HGNC NCBI
COSMIC:
COSM4160986 (not active)
MyVariant.info:
GRCh38 chr6:g.32641349T>C
GRCh37 chr6:g.32609126T>C
Revel Score:
ENST00000486548 0.117
ENST00000343139 (MANE Select) 0.295
ENST00000395364 0.295
ENST00000395363 0.295
ENST00000496318 0.295
ENST00000374949 0.295
gnomAD v2:
6:32609126 T / C
gnomAD v3:
6:32641349 T / C
gnomAD v4:
chr6-32641349-T-C
Joint Max Group AF 0.46291966 (AMR)
Genomes Max Group AF 0.2711605 (NFE)
Exomes Max Group AF 0.52636833 (AMR)
ClinVar RCV:
RCV001666440
ClinVar Variation:
1257290
dbSNP:
1071630
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32641349T>C , CM000668.2:g.32641349T>C GRCh38
NC_000006.11:g.32609126T>C , CM000668.1:g.32609126T>C GRCh37
NC_000006.10:g.32717104T>C NCBI36
NG_032876.1:g.8944T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343139.11:c.122T>C MANE Select ENSP00000339398.5:p.Phe41Ser
ENST00000343139.9:c.122T>C ENSP00000339398.5:p.Phe41Ser
ENST00000374949.2:c.122T>C ENSP00000364087.2:p.Phe41Ser
ENST00000395363.5:c.122T>C ENSP00000378767.1:p.Phe41Ser
ENST00000460633.1:n.150T>C
ENST00000482745.5:c.*954T>C ENSP00000436546.1:n.*954T>C
ENST00000496318.5:c.122T>C ENSP00000437302.1:p.Phe41Ser
NM_002122.3:c.122T>C NP_002113.2:p.Phe41Ser
XM_006715079.2:c.122T>C XP_006715142.1:p.Phe41Ser
XM_006715079.4:c.122T>C XP_006715142.1:p.Phe41Ser
XR_001744085.1:n.87-868A>G
NM_002122.5:c.122T>C MANE Select NP_002113.2:p.Phe41Ser
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