Canonical Allele Identifier: CA375686546

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257419C>A , CM000671.2:g.133257419C>A	GRCh38
NC_000009.11:g.136132806C>A , CM000671.1:g.136132806C>A	GRCh37
NC_000009.10:g.135122627C>A	NCBI36
NG_006669.1:g.20249G>T
NG_006669.2:g.22797G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.393G>T
ENST00000647353.1:n.54-6267G>T
ENST00000651471.1:n.329+623G>T
ENST00000679909.1:c.28+17743G>T	ENSP00000506089.1:n.28+17743G>T
ENST00000453660.3:n.375G>T
ENST00000538324.2:c.361G>T	ENSP00000483018.1:p.Ala121Ser
ENST00000611156.4:c.361G>T	ENSP00000483265.1:p.Ala121Ser
NM_020469.2:c.364G>T	NP_065202.2:p.Ala122Ser
NM_020469.3:c.364G>T	NP_065202.2:p.Ala122Ser