Canonical Allele Identifier: CA375686080

Gene: ABO

Linked Data

• dbSNP Id: rs1834576586
• MyVariant Identifiers: chr9:g.136131540C>T (hg19) ; chr9:g.133256153C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256153C>T , CM000671.2:g.133256153C>T	GRCh38
NC_000009.11:g.136131540C>T , CM000671.1:g.136131540C>T	GRCh37
NC_000009.10:g.135121361C>T	NCBI36
NG_006669.1:g.21515G>A
NG_006669.2:g.24063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.607G>A
ENST00000647353.1:n.54-5001G>A
ENST00000651471.1:n.533G>A
ENST00000679909.1:c.28+19009G>A	ENSP00000506089.1:n.28+19009G>A
ENST00000453660.3:n.589G>A
ENST00000538324.2:c.575G>A	ENSP00000483018.1:p.Ser192Asn
ENST00000611156.4:c.575G>A	ENSP00000483265.1:p.Ser192Asn
NM_020469.2:c.578G>A	NP_065202.2:p.Ser193Asn
NM_020469.3:c.578G>A	NP_065202.2:p.Ser193Asn