Canonical Allele Identifier: CA3743748
Gene: HLA-DQA1 HGNC NCBI
COSMIC:
COSM3949052
dbSNP:
12722051
gnomAD v2:
6:32609147 A / T
gnomAD v3:
6:32641370 A / T
gnomAD v4:
chr6-32641370-A-T
Joint Max Group AF 0.37846694 (SAS)
Genomes Max Group AF 0.37949964 (SAS)
Exomes Max Group AF 0.3777213 (SAS)
MyVariant.info:
GRCh38 chr6:g.32641370A>T
GRCh37 chr6:g.32609147A>T
Revel Score:
ENST00000486548 0.019
ENST00000343139 (MANE Select) 0.071
ENST00000395364 0.071
ENST00000395363 0.071
ENST00000496318 0.071
ENST00000374949 0.071
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32641370A>T , CM000668.2:g.32641370A>T GRCh38
NC_000006.11:g.32609147A>T , CM000668.1:g.32609147A>T GRCh37
NC_000006.10:g.32717125A>T NCBI36
NG_032876.1:g.8965A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343139.11:c.143A>T MANE Select ENSP00000339398.5:p.Tyr48Phe
ENST00000343139.9:c.143A>T ENSP00000339398.5:p.Tyr48Phe
ENST00000374949.2:c.143A>T ENSP00000364087.2:p.Tyr48Phe
ENST00000395363.5:c.143A>T ENSP00000378767.1:p.Tyr48Phe
ENST00000460633.1:n.171A>T
ENST00000482745.5:c.*975A>T ENSP00000436546.1:n.*975A>T
ENST00000496318.5:c.143A>T ENSP00000437302.1:p.Tyr48Phe
NM_002122.3:c.143A>T NP_002113.2:p.Tyr48Phe
XM_006715079.2:c.143A>T XP_006715142.1:p.Tyr48Phe
XM_006715079.4:c.143A>T XP_006715142.1:p.Tyr48Phe
XR_001744085.1:n.87-889T>A
NM_002122.5:c.143A>T MANE Select NP_002113.2:p.Tyr48Phe
Search 100 bp 5'
Search 100 bp 3'