Canonical Allele Identifier: CA375684999
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255919C>A , CM000671.2:g.133255919C>A GRCh38
NC_000009.11:g.136131306C>A , CM000671.1:g.136131306C>A GRCh37
NC_000009.10:g.135121127C>A NCBI36
NG_006669.1:g.21749G>T
NG_006669.2:g.24297G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.841G>T
ENST00000647353.1:n.54-4767G>T
ENST00000679909.1:c.28+19243G>T ENSP00000506089.1:n.28+19243G>T
ENST00000453660.3:n.823G>T
ENST00000538324.2:c.809G>T ENSP00000483018.1:p.Gly270Val
ENST00000611156.4:c.809G>T ENSP00000483265.1:p.Gly270Val
NM_020469.2:c.812G>T NP_065202.2:p.Gly271Val
NM_020469.3:c.812G>T NP_065202.2:p.Gly271Val