Canonical Allele Identifier: CA375684412

Gene: ABO

Linked Data

• dbSNP Id: rs781948068
• gnomAD v3: 9-133255839-C-T
• gnomAD v4: 9-133255839-C-T
• MyVariant Identifiers: chr9:g.136131226C>T (hg19) ; chr9:g.133255839C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255839C>T , CM000671.2:g.133255839C>T	GRCh38
NC_000009.11:g.136131226C>T , CM000671.1:g.136131226C>T	GRCh37
NC_000009.10:g.135121047C>T	NCBI36
NG_006669.1:g.21829G>A
NG_006669.2:g.24377G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.921G>A
ENST00000647353.1:n.54-4687G>A
ENST00000679909.1:c.28+19323G>A	ENSP00000506089.1:n.28+19323G>A
ENST00000453660.3:n.903G>A
ENST00000538324.2:c.889G>A	ENSP00000483018.1:p.Ala297Thr
ENST00000611156.4:c.889G>A	ENSP00000483265.1:p.Ala297Thr
NM_020469.2:c.892G>A	NP_065202.2:p.Ala298Thr
NM_020469.3:c.892G>A	NP_065202.2:p.Ala298Thr