Canonical Allele Identifier: CA375685754

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131465T>G (hg19) ; chr9:g.133256078T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256078T>G , CM000671.2:g.133256078T>G	GRCh38
NC_000009.11:g.136131465T>G , CM000671.1:g.136131465T>G	GRCh37
NC_000009.10:g.135121286T>G	NCBI36
NG_006669.1:g.21590A>C
NG_006669.2:g.24138A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.682A>C
ENST00000647353.1:n.54-4926A>C
ENST00000679909.1:c.28+19084A>C	ENSP00000506089.1:n.28+19084A>C
ENST00000453660.3:n.664A>C
ENST00000538324.2:c.650A>C	ENSP00000483018.1:p.Asp217Ala
ENST00000611156.4:c.650A>C	ENSP00000483265.1:p.Asp217Ala
NM_020469.2:c.653A>C	NP_065202.2:p.Asp218Ala
NM_020469.3:c.653A>C	NP_065202.2:p.Asp218Ala