Canonical Allele Identifier: CA375685148

Gene: ABO

Linked Data

• dbSNP Id: rs2118941282
• MyVariant Identifiers: chr9:g.136131329G>T (hg19) ; chr9:g.133255942G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255942G>T , CM000671.2:g.133255942G>T	GRCh38
NC_000009.11:g.136131329G>T , CM000671.1:g.136131329G>T	GRCh37
NC_000009.10:g.135121150G>T	NCBI36
NG_006669.1:g.21726C>A
NG_006669.2:g.24274C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.818C>A
ENST00000647353.1:n.54-4790C>A
ENST00000679909.1:c.28+19220C>A	ENSP00000506089.1:n.28+19220C>A
ENST00000453660.3:n.800C>A
ENST00000538324.2:c.786C>A	ENSP00000483018.1:p.Phe262Leu
ENST00000611156.4:c.786C>A	ENSP00000483265.1:p.Phe262Leu
NM_020469.2:c.789C>A	NP_065202.2:p.Phe263Leu
NM_020469.3:c.789C>A	NP_065202.2:p.Phe263Leu