Canonical Allele Identifier: CA375682195

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136130999G>A (hg19) ; chr9:g.133255612G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1148C>T
ENST00000647353.1:n.54-4460C>T
ENST00000679909.1:c.28+19550C>T	ENSP00000506089.1:n.28+19550C>T
ENST00000453660.3:n.1130C>T
ENST00000538324.2:c.1112C>T	ENSP00000483018.1:p.Pro371Leu
ENST00000611156.4:c.*54C>T	ENSP00000483265.1:n.*54C>T
NM_020469.2:c.*54C>T	NP_065202.2:n.*54C>T
NM_020469.3:c.*54C>T	NP_065202.2:n.*54C>T