Canonical Allele Identifier: CA375686742

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136132899G>C (hg19) ; chr9:g.133257512G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257512G>C , CM000671.2:g.133257512G>C	GRCh38
NC_000009.11:g.136132899G>C , CM000671.1:g.136132899G>C	GRCh37
NC_000009.10:g.135122720G>C	NCBI36
NG_006669.1:g.20156C>G
NG_006669.2:g.22704C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.300C>G
ENST00000647353.1:n.54-6360C>G
ENST00000651471.1:n.329+530C>G
ENST00000679909.1:c.28+17650C>G	ENSP00000506089.1:n.28+17650C>G
ENST00000453660.3:n.282C>G
ENST00000538324.2:c.268C>G	ENSP00000483018.1:p.Leu90Val
ENST00000611156.4:c.268C>G	ENSP00000483265.1:p.Leu90Val
NM_020469.2:c.271C>G	NP_065202.2:p.Leu91Val
NM_020469.3:c.271C>G	NP_065202.2:p.Leu91Val