Canonical Allele Identifier: CA2786163229
Gene: ABO HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257297A>C , CM000671.2:g.133257297A>C GRCh38
NC_000009.11:g.136132684A>C , CM000671.1:g.136132684A>C GRCh37
NC_000009.10:g.135122505A>C NCBI36
NG_006669.1:g.20371T>G
NG_006669.2:g.22919T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.403+112T>G
ENST00000647353.1:n.54-6145T>G
ENST00000651471.1:n.329+745T>G
ENST00000679909.1:c.28+17865T>G ENSP00000506089.1:n.28+17865T>G
ENST00000453660.3:n.385+112T>G
ENST00000538324.2:c.371+112T>G ENSP00000483018.1:n.371+112T>G
ENST00000611156.4:c.371+112T>G ENSP00000483265.1:n.371+112T>G
NM_020469.2:c.374+112T>G NP_065202.2:n.374+112T>G
NM_020469.3:c.374+112T>G NP_065202.2:n.374+112T>G
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