Canonical Allele Identifier: CA467780128

Gene: ABO

Linked Data

• dbSNP Id: rs1198490932
• gnomAD v2: 9-136130732-T-C
• gnomAD v3: 9-133255345-T-C
• gnomAD v4: 9-133255345-T-C
• MyVariant Identifiers: chr9:g.136130732T>C (hg19) ; chr9:g.133255345T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255345T>C , CM000671.2:g.133255345T>C	GRCh38
NC_000009.11:g.136130732T>C , CM000671.1:g.136130732T>C	GRCh37
NC_000009.10:g.135120553T>C	NCBI36
NG_006669.1:g.22323A>G
NG_006669.2:g.24871A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1415A>G
ENST00000647353.1:n.54-4193A>G
ENST00000679909.1:c.28+19817A>G	ENSP00000506089.1:n.28+19817A>G
ENST00000453660.3:n.1397A>G
ENST00000611156.4:c.*321A>G	ENSP00000483265.1:n.*321A>G
NM_020469.2:c.*321A>G	NP_065202.2:n.*321A>G
NM_020469.3:c.*321A>G	NP_065202.2:n.*321A>G