Canonical Allele Identifier: CA375686082

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131541T>A (hg19) ; chr9:g.133256154T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256154T>A , CM000671.2:g.133256154T>A	GRCh38
NC_000009.11:g.136131541T>A , CM000671.1:g.136131541T>A	GRCh37
NC_000009.10:g.135121362T>A	NCBI36
NG_006669.1:g.21514A>T
NG_006669.2:g.24062A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.606A>T
ENST00000647353.1:n.54-5002A>T
ENST00000651471.1:n.532A>T
ENST00000679909.1:c.28+19008A>T	ENSP00000506089.1:n.28+19008A>T
ENST00000453660.3:n.588A>T
ENST00000538324.2:c.574A>T	ENSP00000483018.1:p.Ser192Cys
ENST00000611156.4:c.574A>T	ENSP00000483265.1:p.Ser192Cys
NM_020469.2:c.577A>T	NP_065202.2:p.Ser193Cys
NM_020469.3:c.577A>T	NP_065202.2:p.Ser193Cys