Canonical Allele Identifier: CA375683397
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255706G>A , CM000671.2:g.133255706G>A GRCh38
NC_000009.11:g.136131093G>A , CM000671.1:g.136131093G>A GRCh37
NC_000009.10:g.135120914G>A NCBI36
NG_006669.1:g.21962C>T
NG_006669.2:g.24510C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.1054C>T
ENST00000647353.1:n.54-4554C>T
ENST00000679909.1:c.28+19456C>T ENSP00000506089.1:n.28+19456C>T
ENST00000453660.3:n.1036C>T
ENST00000538324.2:c.1022C>T ENSP00000483018.1:p.Thr341Ile
ENST00000611156.4:c.1022C>T ENSP00000483265.1:p.Thr341Ile
NM_020469.2:c.1025C>T NP_065202.2:p.Thr342Ile
NM_020469.3:c.1025C>T NP_065202.2:p.Thr342Ile