Canonical Allele Identifier: CA375685780

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131471A>T (hg19) ; chr9:g.133256084A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256084A>T , CM000671.2:g.133256084A>T	GRCh38
NC_000009.11:g.136131471A>T , CM000671.1:g.136131471A>T	GRCh37
NC_000009.10:g.135121292A>T	NCBI36
NG_006669.1:g.21584T>A
NG_006669.2:g.24132T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.676T>A
ENST00000647353.1:n.54-4932T>A
ENST00000679909.1:c.28+19078T>A	ENSP00000506089.1:n.28+19078T>A
ENST00000453660.3:n.658T>A
ENST00000538324.2:c.644T>A	ENSP00000483018.1:p.Phe215Tyr
ENST00000611156.4:c.644T>A	ENSP00000483265.1:p.Phe215Tyr
NM_020469.2:c.647T>A	NP_065202.2:p.Phe216Tyr
NM_020469.3:c.647T>A	NP_065202.2:p.Phe216Tyr