Canonical Allele Identifier: CA2580577323
Community Standard Title: NM_002122.5(HLA-DQA1):c.82+567C>G
Gene: HLA-DQA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32638107C>G , CM000668.2:g.32638107C>G GRCh38
NC_000006.11:g.32605884C>G , CM000668.1:g.32605884C>G GRCh37
NC_000006.10:g.32713862C>G NCBI36
NG_032876.1:g.5702C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002122.5:c.82+567C>G MANE Select NP_002113.2:n.82+567C>G
ENST00000343139.11:c.82+567C>G MANE Select ENSP00000339398.5:n.82+567C>G
NM_002122.3:c.82+567C>G NP_002113.2:n.82+567C>G
ENST00000343139.9:c.82+567C>G ENSP00000339398.5:n.82+567C>G
ENST00000374949.2:c.82+567C>G ENSP00000364087.2:n.82+567C>G
ENST00000395363.5:c.82+567C>G ENSP00000378767.1:n.82+567C>G
ENST00000460633.1:n.110+567C>G
ENST00000482745.5:c.82+567C>G ENSP00000436546.1:n.82+567C>G
ENST00000496318.5:c.82+567C>G ENSP00000437302.1:n.82+567C>G
XM_006715079.2:c.82+567C>G XP_006715142.1:n.82+567C>G
XM_006715079.4:c.82+567C>G XP_006715142.1:n.82+567C>G
XR_001744085.1:n.2461G>C