Canonical Allele Identifier: CA200765583

Gene: ABO

Linked Data

• dbSNP Id: rs782253440
• gnomAD v2: 9-136131699-T-C
• gnomAD v4: 9-133256312-T-C
• MyVariant Identifiers: chr9:g.136131699T>C (hg19) ; chr9:g.133256312T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256312T>C , CM000671.2:g.133256312T>C	GRCh38
NC_000009.11:g.136131699T>C , CM000671.1:g.136131699T>C	GRCh37
NC_000009.10:g.135121520T>C	NCBI36
NG_006669.1:g.21356A>G
NG_006669.2:g.23904A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.448A>G
ENST00000647353.1:n.54-5160A>G
ENST00000651471.1:n.374A>G
ENST00000679909.1:c.28+18850A>G	ENSP00000506089.1:n.28+18850A>G
ENST00000453660.3:n.430A>G
ENST00000538324.2:c.416A>G	ENSP00000483018.1:p.His139Arg
ENST00000611156.4:c.416A>G	ENSP00000483265.1:p.His139Arg
NM_020469.2:c.419A>G	NP_065202.2:p.His140Arg
NM_020469.3:c.419A>G	NP_065202.2:p.His140Arg