Canonical Allele Identifier: CA1882583093

Gene: ABO

Linked Data

• dbSNP Id: rs512770

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133258116G>C , CM000671.2:g.133258116G>C	GRCh38
NG_006669.1:g.19548C>G
NG_006669.2:g.22099C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.250C>G
ENST00000647353.1:n.54-6964C>G
ENST00000651471.1:n.255C>G
ENST00000679909.1:c.28+17046C>G	ENSP00000506089.1:n.28+17046C>G
ENST00000453660.3:n.232C>G
ENST00000538324.2:c.220C>G	ENSP00000483018.1:p.Pro74Ala
ENST00000611156.4:c.220C>G	ENSP00000483265.1:p.Pro74Ala
NM_020469.2:c.220C>G	NP_065202.2:p.Pro74Ala
NM_020469.3:c.220C>G	NP_065202.2:p.Pro74Ala