Canonical Allele Identifier: CA5305914

Gene: ABO

Linked Data

• dbSNP Id: rs781934217
• ExAC: 9:136132887 C / T
• gnomAD v2: 9-136132887-C-T
• gnomAD v4: 9-133257500-C-T
• MyVariant Identifiers: chr9:g.136132887C>T (hg19) ; chr9:g.133257500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257500C>T , CM000671.2:g.133257500C>T	GRCh38
NC_000009.11:g.136132887C>T , CM000671.1:g.136132887C>T	GRCh37
NC_000009.10:g.135122708C>T	NCBI36
NG_006669.1:g.20168G>A
NG_006669.2:g.22716G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.312G>A
ENST00000647353.1:n.54-6348G>A
ENST00000651471.1:n.329+542G>A
ENST00000679909.1:c.28+17662G>A	ENSP00000506089.1:n.28+17662G>A
ENST00000453660.3:n.294G>A
ENST00000538324.2:c.280G>A	ENSP00000483018.1:p.Val94Ile
ENST00000611156.4:c.280G>A	ENSP00000483265.1:p.Val94Ile
NM_020469.2:c.283G>A	NP_065202.2:p.Val95Ile
NM_020469.3:c.283G>A	NP_065202.2:p.Val95Ile