Canonical Allele Identifier: CA375686475

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131730G>C (hg19) ; chr9:g.133256343G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256343G>C , CM000671.2:g.133256343G>C	GRCh38
NC_000009.11:g.136131730G>C , CM000671.1:g.136131730G>C	GRCh37
NC_000009.10:g.135121551G>C	NCBI36
NG_006669.1:g.21325C>G
NG_006669.2:g.23873C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.417C>G
ENST00000647353.1:n.54-5191C>G
ENST00000651471.1:n.343C>G
ENST00000679909.1:c.28+18819C>G	ENSP00000506089.1:n.28+18819C>G
ENST00000453660.3:n.399C>G
ENST00000538324.2:c.385C>G	ENSP00000483018.1:p.Leu129Val
ENST00000611156.4:c.385C>G	ENSP00000483265.1:p.Leu129Val
NM_020469.2:c.388C>G	NP_065202.2:p.Leu130Val
NM_020469.3:c.388C>G	NP_065202.2:p.Leu130Val