Canonical Allele Identifier: CA137021931
Gene: HLA-DOA HGNC NCBI

Linked Data

dbSNP Id: rs999749081
gnomAD v2: 6-32972570-C-T
gnomAD v3: 6-33004793-C-T
gnomAD v4: 6-33004793-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33004793C>T , CM000668.2:g.33004793C>T GRCh38
NC_000006.11:g.32972570C>T , CM000668.1:g.32972570C>T GRCh37
NC_000006.10:g.33080548C>T NCBI36
NG_012007.1:g.9820G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229829.7:c.*2045G>A MANE Select ENSP00000229829.3:n.*2045G>A
ENST00000229829.6:c.*2045G>A ENSP00000229829.3:n.*2045G>A
NM_002119.3:c.*2045G>A NP_002110.1:n.*2045G>A
NM_002119.4:c.*2045G>A MANE Select NP_002110.1:n.*2045G>A