Canonical Allele Identifier: CA5161686
Gene: ALDOB HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.101429815G>T
GRCh37 chr9:g.104192097G>T
Revel Score:
ENST00000374855 0.286
ENST00000374853 0.286
ENST00000430164 0.286
gnomAD v2:
9:104192097 G / T
gnomAD v3:
9:101429815 G / T
gnomAD v4:
chr9-101429815-G-T
Joint Max Group AF 0.0030286 (SAS)
Genomes Max Group AF 0.00309419 (SAS)
Exomes Max Group AF 0.00295546 (SAS)
ClinVar RCV:
RCV000674895
RCV000725650
ClinVar Variation:
285374
dbSNP:
200585150
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101429815G>T , CM000671.2:g.101429815G>T GRCh38
NC_000009.11:g.104192097G>T , CM000671.1:g.104192097G>T GRCh37
NC_000009.10:g.103231918G>T NCBI36
NG_012387.1:g.10966C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.264C>A MANE Select ENSP00000497767.1:p.Asp88Glu
ENST00000648064.1:c.264C>A ENSP00000497990.1:p.Asp88Glu
ENST00000648758.1:c.264C>A ENSP00000497731.1:p.Asp88Glu
ENST00000648906.1:n.434C>A
ENST00000649902.1:c.264C>A ENSP00000497216.1:p.Asp88Glu
ENST00000650613.1:n.340C>A
ENST00000374855.8:c.264C>A ENSP00000363988.4:p.Asp88Glu
ENST00000468981.3:n.61C>A
ENST00000616752.1:c.264C>A ENSP00000481363.1:p.Asp88Glu
NM_000035.3:c.264C>A NP_000026.2:p.Asp88Glu
NM_000035.4:c.264C>A MANE Select NP_000026.2:p.Asp88Glu
Search 100 bp 5'
Search 100 bp 3'