Canonical Allele Identifier: CA136987415
Gene: HLA-DOB HGNC NCBI

Linked Data

dbSNP Id: rs550800334
gnomAD v2: 6-32782032-A-G
gnomAD v3: 6-32814255-A-G
gnomAD v4: 6-32814255-A-G
MyVariant Identifiers: chr6:g.32782032A>G (hg19) chr6:g.32814255A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32814255A>G , CM000668.2:g.32814255A>G GRCh38
NC_000006.11:g.32782032A>G , CM000668.1:g.32782032A>G GRCh37
NC_000006.10:g.32890010A>G NCBI36
NG_009793.3:g.29516T>C
NG_012008.1:g.7794T>C
NG_009793.4:g.29516T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000438763.7:c.643+65T>C MANE Select ENSP00000390020.2:n.643+65T>C
ENST00000648009.1:c.643+65T>C ENSP00000496848.1:n.643+65T>C
ENST00000438763.6:c.643+65T>C ENSP00000390020.2:n.643+65T>C
ENST00000452392.2:c.2464+65T>C ENSP00000391806.2:n.2464+65T>C
ENST00000475235.1:n.745T>C
ENST00000488325.5:c.*414+65T>C ENSP00000436618.1:n.*414+65T>C
NM_002120.3:c.643+65T>C NP_002111.1:n.643+65T>C
NM_002120.4:c.643+65T>C MANE Select NP_002111.1:n.643+65T>C
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