Canonical Allele Identifier: CA375685584

Gene: ABO

Linked Data

• dbSNP Id: rs1834573135
• gnomAD v4: 9-133256045-A-G
• MyVariant Identifiers: chr9:g.136131432A>G (hg19) ; chr9:g.133256045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256045A>G , CM000671.2:g.133256045A>G	GRCh38
NC_000009.11:g.136131432A>G , CM000671.1:g.136131432A>G	GRCh37
NC_000009.10:g.135121253A>G	NCBI36
NG_006669.1:g.21623T>C
NG_006669.2:g.24171T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.715T>C
ENST00000647353.1:n.54-4893T>C
ENST00000679909.1:c.28+19117T>C	ENSP00000506089.1:n.28+19117T>C
ENST00000453660.3:n.697T>C
ENST00000538324.2:c.683T>C	ENSP00000483018.1:p.Phe228Ser
ENST00000611156.4:c.683T>C	ENSP00000483265.1:p.Phe228Ser
NM_020469.2:c.686T>C	NP_065202.2:p.Phe229Ser
NM_020469.3:c.686T>C	NP_065202.2:p.Phe229Ser