Canonical Allele Identifier: CA375686355

Gene: ABO

Linked Data

• dbSNP Id: rs1414291820
• MyVariant Identifiers: chr9:g.136131676G>A (hg19) ; chr9:g.133256289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256289G>A , CM000671.2:g.133256289G>A	GRCh38
NC_000009.11:g.136131676G>A , CM000671.1:g.136131676G>A	GRCh37
NC_000009.10:g.135121497G>A	NCBI36
NG_006669.1:g.21379C>T
NG_006669.2:g.23927C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.471C>T
ENST00000647353.1:n.54-5137C>T
ENST00000651471.1:n.397C>T
ENST00000679909.1:c.28+18873C>T	ENSP00000506089.1:n.28+18873C>T
ENST00000453660.3:n.453C>T
ENST00000538324.2:c.439C>T	ENSP00000483018.1:p.His147Tyr
ENST00000611156.4:c.439C>T	ENSP00000483265.1:p.His147Tyr
NM_020469.2:c.442C>T	NP_065202.2:p.His148Tyr
NM_020469.3:c.442C>T	NP_065202.2:p.His148Tyr