Canonical Allele Identifier: CA5305924

Gene: ABO

Linked Data

• dbSNP Id: rs782592388
• ExAC: 9:136132917 G / T
• gnomAD v2: 9-136132917-G-T
• gnomAD v3: 9-133257530-G-T
• gnomAD v4: 9-133257530-G-T
• MyVariant Identifiers: chr9:g.136132917G>T (hg19) ; chr9:g.133257530G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257530G>T , CM000671.2:g.133257530G>T	GRCh38
NC_000009.11:g.136132917G>T , CM000671.1:g.136132917G>T	GRCh37
NC_000009.10:g.135122738G>T	NCBI36
NG_006669.1:g.20137C>A
NG_006669.2:g.22685C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.282C>A
ENST00000647353.1:n.54-6378C>A
ENST00000651471.1:n.329+512C>A
ENST00000679909.1:c.28+17632C>A	ENSP00000506089.1:n.28+17632C>A
ENST00000453660.3:n.264C>A
ENST00000538324.2:c.252C>A	ENSP00000483018.1:p.Val84=
ENST00000611156.4:c.252C>A	ENSP00000483265.1:p.Val84=
NM_020469.2:c.252C>A	NP_065202.2:p.Val84=
NM_020469.3:c.252C>A	NP_065202.2:p.Val84=