Canonical Allele Identifier: CA363575470
Community Standard Title: NM_002122.5(HLA-DQA1):c.143A>C (p.Tyr48Ser)
Gene: HLA-DQA1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_002122.5:c.143A>C MANE Select NP_002113.2:p.Tyr48Ser
ENST00000343139.11:c.143A>C MANE Select ENSP00000339398.5:p.Tyr48Ser
NM_002122.3:c.143A>C NP_002113.2:p.Tyr48Ser
ENST00000343139.9:c.143A>C ENSP00000339398.5:p.Tyr48Ser
ENST00000374949.2:c.143A>C ENSP00000364087.2:p.Tyr48Ser
ENST00000395363.5:c.143A>C ENSP00000378767.1:p.Tyr48Ser
ENST00000460633.1:n.171A>C
ENST00000482745.5:c.*975A>C ENSP00000436546.1:n.*975A>C
ENST00000496318.5:c.143A>C ENSP00000437302.1:p.Tyr48Ser
XM_006715079.2:c.143A>C XP_006715142.1:p.Tyr48Ser
XM_006715079.4:c.143A>C XP_006715142.1:p.Tyr48Ser
XR_001744085.1:n.87-889T>G