Canonical Allele Identifier: CA375686767

Gene: ABO

Linked Data

• dbSNP Id: rs2118948204
• MyVariant Identifiers: chr9:g.136132910C>A (hg19) ; chr9:g.133257523C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257523C>A , CM000671.2:g.133257523C>A	GRCh38
NC_000009.11:g.136132910C>A , CM000671.1:g.136132910C>A	GRCh37
NC_000009.10:g.135122731C>A	NCBI36
NG_006669.1:g.20144G>T
NG_006669.2:g.22692G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.289G>T
ENST00000647353.1:n.54-6371G>T
ENST00000651471.1:n.329+519G>T
ENST00000679909.1:c.28+17639G>T	ENSP00000506089.1:n.28+17639G>T
ENST00000453660.3:n.271G>T
ENST00000538324.2:c.259-2G>T	ENSP00000483018.1:n.259-2G>T
ENST00000611156.4:c.259-2G>T	ENSP00000483265.1:n.259-2G>T
NM_020469.2:c.259G>T	NP_065202.2:p.Val87Leu
NM_020469.3:c.259G>T	NP_065202.2:p.Val87Leu