Canonical Allele Identifier: CA5305779
Gene: ABO HGNC NCBI
COSMIC:
COSM6350991 (not active)
MyVariant.info:
GRCh38 chr9:g.133256085A>T
GRCh37 chr9:g.136131472A>T
gnomAD v2:
9:136131472 A / T
gnomAD v3:
9:133256085 A / T
gnomAD v4:
chr9-133256085-A-T
Joint Max Group AF 0.42992943 (AMR)
Genomes Max Group AF 0.37167986 (AMR)
Exomes Max Group AF 0.44991504 (AMR)
ClinVar RCV:
RCV001003450
ClinVar Variation:
812632
dbSNP:
8176740
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256085A>T , CM000671.2:g.133256085A>T GRCh38
NC_000009.11:g.136131472A>T , CM000671.1:g.136131472A>T GRCh37
NC_000009.10:g.135121293A>T NCBI36
NG_006669.1:g.21583T>A
NG_006669.2:g.24131T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.675T>A
ENST00000647353.1:n.54-4933T>A
ENST00000679909.1:c.28+19077T>A ENSP00000506089.1:n.28+19077T>A
ENST00000453660.3:n.657T>A
ENST00000538324.2:c.643T>A ENSP00000483018.1:p.Phe215Ile
ENST00000611156.4:c.643T>A ENSP00000483265.1:p.Phe215Ile
NM_020469.2:c.646T>A NP_065202.2:p.Phe216Ile
NM_020469.3:c.646T>A NP_065202.2:p.Phe216Ile
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