Canonical Allele Identifier: CA375685781
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs8176740

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256085A>C , CM000671.2:g.133256085A>C GRCh38
NC_000009.11:g.136131472A>C , CM000671.1:g.136131472A>C GRCh37
NC_000009.10:g.135121293A>C NCBI36
NG_006669.1:g.21583T>G
NG_006669.2:g.24131T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.675T>G
ENST00000647353.1:n.54-4933T>G
ENST00000679909.1:c.28+19077T>G ENSP00000506089.1:n.28+19077T>G
ENST00000453660.3:n.657T>G
ENST00000538324.2:c.643T>G ENSP00000483018.1:p.Phe215Val
ENST00000611156.4:c.643T>G ENSP00000483265.1:p.Phe215Val
NM_020469.2:c.646T>G NP_065202.2:p.Phe216Val
NM_020469.3:c.646T>G NP_065202.2:p.Phe216Val