Canonical Allele Identifier: CA375685475

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131412A>G (hg19) ; chr9:g.133256025A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256025A>G , CM000671.2:g.133256025A>G	GRCh38
NC_000009.11:g.136131412A>G , CM000671.1:g.136131412A>G	GRCh37
NC_000009.10:g.135121233A>G	NCBI36
NG_006669.1:g.21643T>C
NG_006669.2:g.24191T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.735T>C
ENST00000647353.1:n.54-4873T>C
ENST00000679909.1:c.28+19137T>C	ENSP00000506089.1:n.28+19137T>C
ENST00000453660.3:n.717T>C
ENST00000538324.2:c.703T>C	ENSP00000483018.1:p.Phe235Leu
ENST00000611156.4:c.703T>C	ENSP00000483265.1:p.Phe235Leu
NM_020469.2:c.706T>C	NP_065202.2:p.Phe236Leu
NM_020469.3:c.706T>C	NP_065202.2:p.Phe236Leu