Canonical Allele Identifier: CA375682197

Gene: ABO

Linked Data

• gnomAD v4: 9-133255612-G-T
• MyVariant Identifiers: chr9:g.136130999G>T (hg19) ; chr9:g.133255612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255612G>T , CM000671.2:g.133255612G>T	GRCh38
NC_000009.11:g.136130999G>T , CM000671.1:g.136130999G>T	GRCh37
NC_000009.10:g.135120820G>T	NCBI36
NG_006669.1:g.22056C>A
NG_006669.2:g.24604C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1148C>A
ENST00000647353.1:n.54-4460C>A
ENST00000679909.1:c.28+19550C>A	ENSP00000506089.1:n.28+19550C>A
ENST00000453660.3:n.1130C>A
ENST00000538324.2:c.1112C>A	ENSP00000483018.1:p.Pro371His
ENST00000611156.4:c.*54C>A	ENSP00000483265.1:n.*54C>A
NM_020469.2:c.*54C>A	NP_065202.2:n.*54C>A
NM_020469.3:c.*54C>A	NP_065202.2:n.*54C>A