Canonical Allele Identifier: CA375685304
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs1834570929

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255995A>G , CM000671.2:g.133255995A>G GRCh38
NC_000009.11:g.136131382A>G , CM000671.1:g.136131382A>G GRCh37
NC_000009.10:g.135121203A>G NCBI36
NG_006669.1:g.21673T>C
NG_006669.2:g.24221T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.765T>C
ENST00000647353.1:n.54-4843T>C
ENST00000679909.1:c.28+19167T>C ENSP00000506089.1:n.28+19167T>C
ENST00000453660.3:n.747T>C
ENST00000538324.2:c.733T>C ENSP00000483018.1:p.Tyr245His
ENST00000611156.4:c.733T>C ENSP00000483265.1:p.Tyr245His
NM_020469.2:c.736T>C NP_065202.2:p.Tyr246His
NM_020469.3:c.736T>C NP_065202.2:p.Tyr246His