Canonical Allele Identifier: CA375686471

Gene: ABO

Linked Data

• COSMIC: COSM3929891
• MyVariant Identifiers: chr9:g.136131727T>C (hg19) ; chr9:g.133256340T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256340T>C , CM000671.2:g.133256340T>C	GRCh38
NC_000009.11:g.136131727T>C , CM000671.1:g.136131727T>C	GRCh37
NC_000009.10:g.135121548T>C	NCBI36
NG_006669.1:g.21328A>G
NG_006669.2:g.23876A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.420A>G
ENST00000647353.1:n.54-5188A>G
ENST00000651471.1:n.346A>G
ENST00000679909.1:c.28+18822A>G	ENSP00000506089.1:n.28+18822A>G
ENST00000453660.3:n.402A>G
ENST00000538324.2:c.388A>G	ENSP00000483018.1:p.Lys130Glu
ENST00000611156.4:c.388A>G	ENSP00000483265.1:p.Lys130Glu
NM_020469.2:c.391A>G	NP_065202.2:p.Lys131Glu
NM_020469.3:c.391A>G	NP_065202.2:p.Lys131Glu