Canonical Allele Identifier: CA5305894

Gene: ABO

Linked Data

• dbSNP Id: rs782113784
• ExAC: 9:136132820 C / G
• gnomAD v2: 9-136132820-C-G
• gnomAD v3: 9-133257433-C-G
• gnomAD v4: 9-133257433-C-G
• MyVariant Identifiers: chr9:g.136132820C>G (hg19) ; chr9:g.133257433C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.379G>C
ENST00000647353.1:n.54-6281G>C
ENST00000651471.1:n.329+609G>C
ENST00000679909.1:c.28+17729G>C	ENSP00000506089.1:n.28+17729G>C
ENST00000453660.3:n.361G>C
ENST00000538324.2:c.347G>C	ENSP00000483018.1:p.Gly116Ala
ENST00000611156.4:c.347G>C	ENSP00000483265.1:p.Gly116Ala
NM_020469.2:c.350G>C	NP_065202.2:p.Gly117Ala
NM_020469.3:c.350G>C	NP_065202.2:p.Gly117Ala