Canonical Allele Identifier: CA5305801

Gene: ABO

Linked Data

• dbSNP Id: rs781917315
• ExAC: 9:136131541 T / C
• gnomAD v2: 9-136131541-T-C
• MyVariant Identifiers: chr9:g.136131541T>C (hg19) ; chr9:g.133256154T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256154T>C , CM000671.2:g.133256154T>C	GRCh38
NC_000009.11:g.136131541T>C , CM000671.1:g.136131541T>C	GRCh37
NC_000009.10:g.135121362T>C	NCBI36
NG_006669.1:g.21514A>G
NG_006669.2:g.24062A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.606A>G
ENST00000647353.1:n.54-5002A>G
ENST00000651471.1:n.532A>G
ENST00000679909.1:c.28+19008A>G	ENSP00000506089.1:n.28+19008A>G
ENST00000453660.3:n.588A>G
ENST00000538324.2:c.574A>G	ENSP00000483018.1:p.Ser192Gly
ENST00000611156.4:c.574A>G	ENSP00000483265.1:p.Ser192Gly
NM_020469.2:c.577A>G	NP_065202.2:p.Ser193Gly
NM_020469.3:c.577A>G	NP_065202.2:p.Ser193Gly