Canonical Allele Identifier: CA375684172

Gene: ABO

Linked Data

• dbSNP Id: rs1330704053
• gnomAD v2: 9-136131199-T-C
• gnomAD v4: 9-133255812-T-C
• MyVariant Identifiers: chr9:g.136131199T>C (hg19) ; chr9:g.133255812T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255812T>C , CM000671.2:g.133255812T>C	GRCh38
NC_000009.11:g.136131199T>C , CM000671.1:g.136131199T>C	GRCh37
NC_000009.10:g.135121020T>C	NCBI36
NG_006669.1:g.21856A>G
NG_006669.2:g.24404A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.948A>G
ENST00000647353.1:n.54-4660A>G
ENST00000679909.1:c.28+19350A>G	ENSP00000506089.1:n.28+19350A>G
ENST00000453660.3:n.930A>G
ENST00000538324.2:c.916A>G	ENSP00000483018.1:p.Asn306Asp
ENST00000611156.4:c.916A>G	ENSP00000483265.1:p.Asn306Asp
NM_020469.2:c.919A>G	NP_065202.2:p.Asn307Asp
NM_020469.3:c.919A>G	NP_065202.2:p.Asn307Asp