Canonical Allele Identifier: CA375684312

Gene: ABO

Linked Data

• dbSNP Id: rs1834564747
• gnomAD v4: 9-133255826-T-G
• MyVariant Identifiers: chr9:g.136131213T>G (hg19) ; chr9:g.133255826T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255826T>G , CM000671.2:g.133255826T>G	GRCh38
NC_000009.11:g.136131213T>G , CM000671.1:g.136131213T>G	GRCh37
NC_000009.10:g.135121034T>G	NCBI36
NG_006669.1:g.21842A>C
NG_006669.2:g.24390A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.934A>C
ENST00000647353.1:n.54-4674A>C
ENST00000679909.1:c.28+19336A>C	ENSP00000506089.1:n.28+19336A>C
ENST00000453660.3:n.916A>C
ENST00000538324.2:c.902A>C	ENSP00000483018.1:p.Asp301Ala
ENST00000611156.4:c.902A>C	ENSP00000483265.1:p.Asp301Ala
NM_020469.2:c.905A>C	NP_065202.2:p.Asp302Ala
NM_020469.3:c.905A>C	NP_065202.2:p.Asp302Ala