Canonical Allele Identifier: CA5305772

Gene: ABO

Linked Data

• dbSNP Id: rs782207945
• ExAC: 9:136131460 C / T
• gnomAD v2: 9-136131460-C-T
• gnomAD v3: 9-133256073-C-T
• gnomAD v4: 9-133256073-C-T
• MyVariant Identifiers: chr9:g.136131460C>T (hg19) ; chr9:g.136131460_136131461delinsTG (hg19) ; chr9:g.133256073C>T (hg38) ; chr9:g.133256073_133256074delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256073C>T , CM000671.2:g.133256073C>T	GRCh38
NC_000009.11:g.136131460C>T , CM000671.1:g.136131460C>T	GRCh37
NC_000009.10:g.135121281C>T	NCBI36
NG_006669.1:g.21595G>A
NG_006669.2:g.24143G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.687G>A
ENST00000647353.1:n.54-4921G>A
ENST00000679909.1:c.28+19089G>A	ENSP00000506089.1:n.28+19089G>A
ENST00000453660.3:n.669G>A
ENST00000538324.2:c.655G>A	ENSP00000483018.1:p.Val219Met
ENST00000611156.4:c.655G>A	ENSP00000483265.1:p.Val219Met
NM_020469.2:c.658G>A	NP_065202.2:p.Val220Met
NM_020469.3:c.658G>A	NP_065202.2:p.Val220Met