Canonical Allele Identifier: CA375685868

Gene: ABO

Linked Data

• dbSNP Id: rs1236169059
• gnomAD v2: 9-136131486-T-C
• gnomAD v4: 9-133256099-T-C
• MyVariant Identifiers: chr9:g.136131486T>C (hg19) ; chr9:g.133256099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256099T>C , CM000671.2:g.133256099T>C	GRCh38
NC_000009.11:g.136131486T>C , CM000671.1:g.136131486T>C	GRCh37
NC_000009.10:g.135121307T>C	NCBI36
NG_006669.1:g.21569A>G
NG_006669.2:g.24117A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.661A>G
ENST00000647353.1:n.54-4947A>G
ENST00000679909.1:c.28+19063A>G	ENSP00000506089.1:n.28+19063A>G
ENST00000453660.3:n.643A>G
ENST00000538324.2:c.629A>G	ENSP00000483018.1:p.Asp210Gly
ENST00000611156.4:c.629A>G	ENSP00000483265.1:p.Asp210Gly
NM_020469.2:c.632A>G	NP_065202.2:p.Asp211Gly
NM_020469.3:c.632A>G	NP_065202.2:p.Asp211Gly