Canonical Allele Identifier: CA5305689

Gene: ABO

Linked Data

• dbSNP Id: rs376028363
• ExAC: 9:136131211 C / T
• gnomAD v2: 9-136131211-C-T
• gnomAD v3: 9-133255824-C-T
• gnomAD v4: 9-133255824-C-T
• MyVariant Identifiers: chr9:g.136131211C>T (hg19) ; chr9:g.133255824C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255824C>T , CM000671.2:g.133255824C>T	GRCh38
NC_000009.11:g.136131211C>T , CM000671.1:g.136131211C>T	GRCh37
NC_000009.10:g.135121032C>T	NCBI36
NG_006669.1:g.21844G>A
NG_006669.2:g.24392G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.936G>A
ENST00000647353.1:n.54-4672G>A
ENST00000679909.1:c.28+19338G>A	ENSP00000506089.1:n.28+19338G>A
ENST00000453660.3:n.918G>A
ENST00000538324.2:c.904G>A	ENSP00000483018.1:p.Glu302Lys
ENST00000611156.4:c.904G>A	ENSP00000483265.1:p.Glu302Lys
NM_020469.2:c.907G>A	NP_065202.2:p.Glu303Lys
NM_020469.3:c.907G>A	NP_065202.2:p.Glu303Lys