Canonical Allele Identifier: CA5305908

Gene: ABO

Linked Data

• dbSNP Id: rs781961996
• ExAC: 9:136132866 T / A
• gnomAD v4: 9-133257479-T-A
• MyVariant Identifiers: chr9:g.136132866T>A (hg19) ; chr9:g.133257479T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257479T>A , CM000671.2:g.133257479T>A	GRCh38
NC_000009.11:g.136132866T>A , CM000671.1:g.136132866T>A	GRCh37
NC_000009.10:g.135122687T>A	NCBI36
NG_006669.1:g.20189A>T
NG_006669.2:g.22737A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.333A>T
ENST00000647353.1:n.54-6327A>T
ENST00000651471.1:n.329+563A>T
ENST00000679909.1:c.28+17683A>T	ENSP00000506089.1:n.28+17683A>T
ENST00000453660.3:n.315A>T
ENST00000538324.2:c.301A>T	ENSP00000483018.1:p.Ile101Phe
ENST00000611156.4:c.301A>T	ENSP00000483265.1:p.Ile101Phe
NM_020469.2:c.304A>T	NP_065202.2:p.Ile102Phe
NM_020469.3:c.304A>T	NP_065202.2:p.Ile102Phe