Canonical Allele Identifier: CA375686783

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136132919C>A (hg19) ; chr9:g.133257532C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257532C>A , CM000671.2:g.133257532C>A	GRCh38
NC_000009.11:g.136132919C>A , CM000671.1:g.136132919C>A	GRCh37
NC_000009.10:g.135122740C>A	NCBI36
NG_006669.1:g.20135G>T
NG_006669.2:g.22683G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.280G>T
ENST00000647353.1:n.54-6380G>T
ENST00000651471.1:n.329+510G>T
ENST00000679909.1:c.28+17630G>T	ENSP00000506089.1:n.28+17630G>T
ENST00000453660.3:n.262G>T
ENST00000538324.2:c.250G>T	ENSP00000483018.1:p.Val84Phe
ENST00000611156.4:c.250G>T	ENSP00000483265.1:p.Val84Phe
NM_020469.2:c.250G>T	NP_065202.2:p.Val84Phe
NM_020469.3:c.250G>T	NP_065202.2:p.Val84Phe