Canonical Allele Identifier: CA375682210

Gene: ABO

Linked Data

• dbSNP Id: rs1834555744
• gnomAD v3: 9-133255619-A-G
• gnomAD v4: 9-133255619-A-G
• MyVariant Identifiers: chr9:g.136131006A>G (hg19) ; chr9:g.133255619A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255619A>G , CM000671.2:g.133255619A>G	GRCh38
NC_000009.11:g.136131006A>G , CM000671.1:g.136131006A>G	GRCh37
NC_000009.10:g.135120827A>G	NCBI36
NG_006669.1:g.22049T>C
NG_006669.2:g.24597T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1141T>C
ENST00000647353.1:n.54-4467T>C
ENST00000679909.1:c.28+19543T>C	ENSP00000506089.1:n.28+19543T>C
ENST00000453660.3:n.1123T>C
ENST00000538324.2:c.1105T>C	ENSP00000483018.1:p.Ser369Pro
ENST00000611156.4:c.*47T>C	ENSP00000483265.1:n.*47T>C
NM_020469.2:c.*47T>C	NP_065202.2:n.*47T>C
NM_020469.3:c.*47T>C	NP_065202.2:n.*47T>C