Canonical Allele Identifier: CA200765570

Gene: ABO

Linked Data

• dbSNP Id: rs939847602
• gnomAD: 9:136131658 C / T
• COSMIC: COSM5584344
• MyVariant Identifiers: chr9:g.136131658C>T (hg19) ; chr9:g.133256271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256271C>T , CM000671.2:g.133256271C>T	GRCh38
NC_000009.11:g.136131658C>T , CM000671.1:g.136131658C>T	GRCh37
NC_000009.10:g.135121479C>T	NCBI36
NG_006669.1:g.21397G>A
NG_006669.2:g.23945G>A

Transcript Alleles

HGVS	Amino-acid change
NM_020469.2:c.460G>A	NP_065202.2:p.Asp154Asn
NM_020469.3:c.460G>A	NP_065202.2:p.Asp154Asn
ENST00000453660.3:n.471G>A
ENST00000538324.2:c.457G>A	ENSP00000483018.1:p.Asp153Asn
ENST00000611156.4:c.457G>A	ENSP00000483265.1:p.Asp153Asn