Canonical Allele Identifier: CA200771111
Gene: ABO HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133274306G>A , CM000671.2:g.133274306G>A GRCh38
NG_006669.1:g.3328C>T
NG_006669.2:g.5909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.58+856C>T
ENST00000647353.1:n.53+856C>T
ENST00000651471.1:n.63+1656C>T
ENST00000679909.1:c.28+856C>T ENSP00000506089.1:n.28+856C>T
ENST00000453660.3:n.40+856C>T
ENST00000538324.2:c.28+856C>T ENSP00000483018.1:n.28+856C>T
ENST00000611156.4:c.28+856C>T ENSP00000483265.1:n.28+856C>T
NM_020469.2:c.28+856C>T NP_065202.2:n.28+856C>T
NM_020469.3:c.28+856C>T NP_065202.2:n.28+856C>T