Canonical Allele Identifier: CA5305893

Gene: ABO

Linked Data

• dbSNP Id: rs782113784
• ExAC: 9:136132820 C / T
• gnomAD v2: 9-136132820-C-T
• gnomAD v4: 9-133257433-C-T
• MyVariant Identifiers: chr9:g.136132820C>T (hg19) ; chr9:g.133257433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257433C>T , CM000671.2:g.133257433C>T	GRCh38
NC_000009.11:g.136132820C>T , CM000671.1:g.136132820C>T	GRCh37
NC_000009.10:g.135122641C>T	NCBI36
NG_006669.1:g.20235G>A
NG_006669.2:g.22783G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.379G>A
ENST00000647353.1:n.54-6281G>A
ENST00000651471.1:n.329+609G>A
ENST00000679909.1:c.28+17729G>A	ENSP00000506089.1:n.28+17729G>A
ENST00000453660.3:n.361G>A
ENST00000538324.2:c.347G>A	ENSP00000483018.1:p.Gly116Glu
ENST00000611156.4:c.347G>A	ENSP00000483265.1:p.Gly116Glu
NM_020469.2:c.350G>A	NP_065202.2:p.Gly117Glu
NM_020469.3:c.350G>A	NP_065202.2:p.Gly117Glu