Canonical Allele Identifier: CA375686779

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136132916G>C (hg19) ; chr9:g.133257529G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257529G>C , CM000671.2:g.133257529G>C	GRCh38
NC_000009.11:g.136132916G>C , CM000671.1:g.136132916G>C	GRCh37
NC_000009.10:g.135122737G>C	NCBI36
NG_006669.1:g.20138C>G
NG_006669.2:g.22686C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.283C>G
ENST00000647353.1:n.54-6377C>G
ENST00000651471.1:n.329+513C>G
ENST00000679909.1:c.28+17633C>G	ENSP00000506089.1:n.28+17633C>G
ENST00000453660.3:n.265C>G
ENST00000538324.2:c.253C>G	ENSP00000483018.1:p.Leu85Val
ENST00000611156.4:c.253C>G	ENSP00000483265.1:p.Leu85Val
NM_020469.2:c.253C>G	NP_065202.2:p.Leu85Val
NM_020469.3:c.253C>G	NP_065202.2:p.Leu85Val