Canonical Allele Identifier: CA375686345

Gene: ABO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256285T>A , CM000671.2:g.133256285T>A	GRCh38
NC_000009.11:g.136131672T>A , CM000671.1:g.136131672T>A	GRCh37
NC_000009.10:g.135121493T>A	NCBI36
NG_006669.1:g.21383A>T
NG_006669.2:g.23931A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.475A>T
ENST00000647353.1:n.54-5133A>T
ENST00000651471.1:n.401A>T
ENST00000679909.1:c.28+18877A>T	ENSP00000506089.1:n.28+18877A>T
ENST00000453660.3:n.457A>T
ENST00000538324.2:c.443A>T	ENSP00000483018.1:p.Tyr148Phe
ENST00000611156.4:c.443A>T	ENSP00000483265.1:p.Tyr148Phe
NM_020469.2:c.446A>T	NP_065202.2:p.Tyr149Phe
NM_020469.3:c.446A>T	NP_065202.2:p.Tyr149Phe