Canonical Allele Identifier: CA375686573

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136132818A>C (hg19) ; chr9:g.133257431A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257431A>C , CM000671.2:g.133257431A>C	GRCh38
NC_000009.11:g.136132818A>C , CM000671.1:g.136132818A>C	GRCh37
NC_000009.10:g.135122639A>C	NCBI36
NG_006669.1:g.20237T>G
NG_006669.2:g.22785T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.381T>G
ENST00000647353.1:n.54-6279T>G
ENST00000651471.1:n.329+611T>G
ENST00000679909.1:c.28+17731T>G	ENSP00000506089.1:n.28+17731T>G
ENST00000453660.3:n.363T>G
ENST00000538324.2:c.349T>G	ENSP00000483018.1:p.Leu117Val
ENST00000611156.4:c.349T>G	ENSP00000483265.1:p.Leu117Val
NM_020469.2:c.352T>G	NP_065202.2:p.Leu118Val
NM_020469.3:c.352T>G	NP_065202.2:p.Leu118Val