Canonical Allele Identifier: CA375682184

Gene: ABO

Linked Data

• dbSNP Id: rs1834555117
• MyVariant Identifiers: chr9:g.136130994A>G (hg19) ; chr9:g.133255607A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255607A>G , CM000671.2:g.133255607A>G	GRCh38
NC_000009.11:g.136130994A>G , CM000671.1:g.136130994A>G	GRCh37
NC_000009.10:g.135120815A>G	NCBI36
NG_006669.1:g.22061T>C
NG_006669.2:g.24609T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1153T>C
ENST00000647353.1:n.54-4455T>C
ENST00000679909.1:c.28+19555T>C	ENSP00000506089.1:n.28+19555T>C
ENST00000453660.3:n.1135T>C
ENST00000538324.2:c.1117T>C	ENSP00000483018.1:p.Phe373Leu
ENST00000611156.4:c.*59T>C	ENSP00000483265.1:n.*59T>C
NM_020469.2:c.*59T>C	NP_065202.2:n.*59T>C
NM_020469.3:c.*59T>C	NP_065202.2:n.*59T>C