Canonical Allele Identifier: CA375684715
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255872C>G , CM000671.2:g.133255872C>G GRCh38
NC_000009.11:g.136131259C>G , CM000671.1:g.136131259C>G GRCh37
NC_000009.10:g.135121080C>G NCBI36
NG_006669.1:g.21796G>C
NG_006669.2:g.24344G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.888G>C
ENST00000647353.1:n.54-4720G>C
ENST00000679909.1:c.28+19290G>C ENSP00000506089.1:n.28+19290G>C
ENST00000453660.3:n.870G>C
ENST00000538324.2:c.856G>C ENSP00000483018.1:p.Ala286Pro
ENST00000611156.4:c.856G>C ENSP00000483265.1:p.Ala286Pro
NM_020469.2:c.859G>C NP_065202.2:p.Ala287Pro
NM_020469.3:c.859G>C NP_065202.2:p.Ala287Pro