Canonical Allele Identifier: CA200766397
Gene: ABO HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133258116G>A
gnomAD v3:
9:133258116 G / A
gnomAD v4:
chr9-133258116-G-A
Joint Max Group AF 0.44210698 (AMR)
Genomes Max Group AF 0.36917013 (AMR)
Exomes Max Group AF 0.46496531 (AMR)
ClinVar RCV:
RCV000948820
ClinVar Variation:
769757
dbSNP:
512770
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133258116G>A , CM000671.2:g.133258116G>A GRCh38
NG_006669.1:g.19548C>T
NG_006669.2:g.22099C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.250C>T
ENST00000647353.1:n.54-6964C>T
ENST00000651471.1:n.255C>T
ENST00000679909.1:c.28+17046C>T ENSP00000506089.1:n.28+17046C>T
ENST00000453660.3:n.232C>T
ENST00000538324.2:c.220C>T ENSP00000483018.1:p.Pro74Ser
ENST00000611156.4:c.220C>T ENSP00000483265.1:p.Pro74Ser
NM_020469.2:c.220C>T NP_065202.2:p.Pro74Ser
NM_020469.3:c.220C>T NP_065202.2:p.Pro74Ser
Search 100 bp 5'
Search 100 bp 3'