Canonical Allele Identifier: CA375683404
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.1054C>A
ENST00000647353.1:n.54-4554C>A
ENST00000679909.1:c.28+19456C>A ENSP00000506089.1:n.28+19456C>A
ENST00000453660.3:n.1036C>A
ENST00000538324.2:c.1022C>A ENSP00000483018.1:p.Thr341Asn
ENST00000611156.4:c.1022C>A ENSP00000483265.1:p.Thr341Asn
NM_020469.2:c.1025C>A NP_065202.2:p.Thr342Asn
NM_020469.3:c.1025C>A NP_065202.2:p.Thr342Asn