Canonical Allele Identifier: CA5305784

Gene: ABO

Linked Data

• dbSNP Id: rs376840879
• ExAC: 9:136131484 C / T
• gnomAD v2: 9-136131484-C-T
• gnomAD v3: 9-133256097-C-T
• gnomAD v4: 9-133256097-C-T
• MyVariant Identifiers: chr9:g.136131484C>T (hg19) ; chr9:g.133256097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256097C>T , CM000671.2:g.133256097C>T	GRCh38
NC_000009.11:g.136131484C>T , CM000671.1:g.136131484C>T	GRCh37
NC_000009.10:g.135121305C>T	NCBI36
NG_006669.1:g.21571G>A
NG_006669.2:g.24119G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.663G>A
ENST00000647353.1:n.54-4945G>A
ENST00000679909.1:c.28+19065G>A	ENSP00000506089.1:n.28+19065G>A
ENST00000453660.3:n.645G>A
ENST00000538324.2:c.631G>A	ENSP00000483018.1:p.Val211Met
ENST00000611156.4:c.631G>A	ENSP00000483265.1:p.Val211Met
NM_020469.2:c.634G>A	NP_065202.2:p.Val212Met
NM_020469.3:c.634G>A	NP_065202.2:p.Val212Met