Canonical Allele Identifier: CA375686614

Gene: ABO

Linked Data

• gnomAD v4: 9-133257452-G-A
• MyVariant Identifiers: chr9:g.136132839G>A (hg19) ; chr9:g.133257452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257452G>A , CM000671.2:g.133257452G>A	GRCh38
NC_000009.11:g.136132839G>A , CM000671.1:g.136132839G>A	GRCh37
NC_000009.10:g.135122660G>A	NCBI36
NG_006669.1:g.20216C>T
NG_006669.2:g.22764C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.360C>T
ENST00000647353.1:n.54-6300C>T
ENST00000651471.1:n.329+590C>T
ENST00000679909.1:c.28+17710C>T	ENSP00000506089.1:n.28+17710C>T
ENST00000453660.3:n.342C>T
ENST00000538324.2:c.328C>T	ENSP00000483018.1:p.Leu110Phe
ENST00000611156.4:c.328C>T	ENSP00000483265.1:p.Leu110Phe
NM_020469.2:c.331C>T	NP_065202.2:p.Leu111Phe
NM_020469.3:c.331C>T	NP_065202.2:p.Leu111Phe