Canonical Allele Identifier: CA375686542
Gene: ABO HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257416T>C , CM000671.2:g.133257416T>C GRCh38
NC_000009.11:g.136132803T>C , CM000671.1:g.136132803T>C GRCh37
NC_000009.10:g.135122624T>C NCBI36
NG_006669.1:g.20252A>G
NG_006669.2:g.22800A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.396A>G
ENST00000647353.1:n.54-6264A>G
ENST00000651471.1:n.329+626A>G
ENST00000679909.1:c.28+17746A>G ENSP00000506089.1:n.28+17746A>G
ENST00000453660.3:n.378A>G
ENST00000538324.2:c.364A>G ENSP00000483018.1:p.Ile122Val
ENST00000611156.4:c.364A>G ENSP00000483265.1:p.Ile122Val
NM_020469.2:c.367A>G NP_065202.2:p.Ile123Val
NM_020469.3:c.367A>G NP_065202.2:p.Ile123Val
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