Canonical Allele Identifier: CA5305890

Gene: ABO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257418G>A , CM000671.2:g.133257418G>A	GRCh38
NC_000009.11:g.136132805G>A , CM000671.1:g.136132805G>A	GRCh37
NC_000009.10:g.135122626G>A	NCBI36
NG_006669.1:g.20250C>T
NG_006669.2:g.22798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.394C>T
ENST00000647353.1:n.54-6266C>T
ENST00000651471.1:n.329+624C>T
ENST00000679909.1:c.28+17744C>T	ENSP00000506089.1:n.28+17744C>T
ENST00000453660.3:n.376C>T
ENST00000538324.2:c.362C>T	ENSP00000483018.1:p.Ala121Val
ENST00000611156.4:c.362C>T	ENSP00000483265.1:p.Ala121Val
NM_020469.2:c.365C>T	NP_065202.2:p.Ala122Val
NM_020469.3:c.365C>T	NP_065202.2:p.Ala122Val