Canonical Allele Identifier: CA196959550
Gene: ALDOB HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.101435708C>G
GRCh37 chr9:g.104197990C>G
gnomAD v2:
9:104197990 C / G
gnomAD v3:
9:101435708 C / G
gnomAD v4:
chr9-101435708-C-G
Joint Max Group AF 0.00021477 (AMR)
Genomes Max Group AF 0.00021477 (AMR)
ClinVar RCV:
RCV000589599
ClinVar Variation:
495347
dbSNP:
181639417
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101435708C>G , CM000671.2:g.101435708C>G GRCh38
NC_000009.11:g.104197990C>G , CM000671.1:g.104197990C>G GRCh37
NC_000009.10:g.103237811C>G NCBI36
NG_012387.1:g.5073G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.-11+1G>C MANE Select ENSP00000497767.1:n.-11+1G>C
ENST00000648064.1:c.-10-4811G>C ENSP00000497990.1:n.-10-4811G>C
ENST00000648423.1:c.-11+1G>C ENSP00000497985.1:n.-11+1G>C
ENST00000648758.1:c.-10-4811G>C ENSP00000497731.1:n.-10-4811G>C
ENST00000650613.1:n.66+1G>C
ENST00000374855.8:c.-11+1G>C ENSP00000363988.4:n.-11+1G>C
ENST00000616752.1:c.-11+1G>C ENSP00000481363.1:n.-11+1G>C
NM_000035.3:c.-11+1G>C NP_000026.2:n.-11+1G>C
NM_000035.4:c.-11+1G>C MANE Select NP_000026.2:n.-11+1G>C
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