Canonical Allele Identifier: CA375686278
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256253G>C , CM000671.2:g.133256253G>C GRCh38
NC_000009.11:g.136131640G>C , CM000671.1:g.136131640G>C GRCh37
NC_000009.10:g.135121461G>C NCBI36
NG_006669.1:g.21415C>G
NG_006669.2:g.23963C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.507C>G
ENST00000647353.1:n.54-5101C>G
ENST00000651471.1:n.433C>G
ENST00000679909.1:c.28+18909C>G ENSP00000506089.1:n.28+18909C>G
ENST00000453660.3:n.489C>G
ENST00000538324.2:c.475C>G ENSP00000483018.1:p.Pro159Ala
ENST00000611156.4:c.475C>G ENSP00000483265.1:p.Pro159Ala
NM_020469.2:c.478C>G NP_065202.2:p.Pro160Ala
NM_020469.3:c.478C>G NP_065202.2:p.Pro160Ala