Canonical Allele Identifier: CA375686317
Gene: ABO HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256273G>C , CM000671.2:g.133256273G>C GRCh38
NC_000009.11:g.136131660G>C , CM000671.1:g.136131660G>C GRCh37
NC_000009.10:g.135121481G>C NCBI36
NG_006669.1:g.21395C>G
NG_006669.2:g.23943C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.487C>G
ENST00000647353.1:n.54-5121C>G
ENST00000651471.1:n.413C>G
ENST00000679909.1:c.28+18889C>G ENSP00000506089.1:n.28+18889C>G
ENST00000453660.3:n.469C>G
ENST00000538324.2:c.455C>G ENSP00000483018.1:p.Thr152Ser
ENST00000611156.4:c.455C>G ENSP00000483265.1:p.Thr152Ser
NM_020469.2:c.458C>G NP_065202.2:p.Thr153Ser
NM_020469.3:c.458C>G NP_065202.2:p.Thr153Ser
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