Canonical Allele Identifier: CA375686659

Gene: ABO

Linked Data

• dbSNP Id: rs782676228
• gnomAD v4: 9-133257472-A-T
• MyVariant Identifiers: chr9:g.136132859A>T (hg19) ; chr9:g.133257472A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257472A>T , CM000671.2:g.133257472A>T	GRCh38
NC_000009.11:g.136132859A>T , CM000671.1:g.136132859A>T	GRCh37
NC_000009.10:g.135122680A>T	NCBI36
NG_006669.1:g.20196T>A
NG_006669.2:g.22744T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.340T>A
ENST00000647353.1:n.54-6320T>A
ENST00000651471.1:n.329+570T>A
ENST00000679909.1:c.28+17690T>A	ENSP00000506089.1:n.28+17690T>A
ENST00000453660.3:n.322T>A
ENST00000538324.2:c.308T>A	ENSP00000483018.1:p.Ile103Asn
ENST00000611156.4:c.308T>A	ENSP00000483265.1:p.Ile103Asn
NM_020469.2:c.311T>A	NP_065202.2:p.Ile104Asn
NM_020469.3:c.311T>A	NP_065202.2:p.Ile104Asn