Canonical Allele Identifier: CA375686330

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256279A>G , CM000671.2:g.133256279A>G	GRCh38
NC_000009.11:g.136131666A>G , CM000671.1:g.136131666A>G	GRCh37
NC_000009.10:g.135121487A>G	NCBI36
NG_006669.1:g.21389T>C
NG_006669.2:g.23937T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.481T>C
ENST00000647353.1:n.54-5127T>C
ENST00000651471.1:n.407T>C
ENST00000679909.1:c.28+18883T>C	ENSP00000506089.1:n.28+18883T>C
ENST00000453660.3:n.463T>C
ENST00000538324.2:c.449T>C	ENSP00000483018.1:p.Val150Ala
ENST00000611156.4:c.449T>C	ENSP00000483265.1:p.Val150Ala
NM_020469.2:c.452T>C	NP_065202.2:p.Val151Ala
NM_020469.3:c.452T>C	NP_065202.2:p.Val151Ala