Canonical Allele Identifier: CA374265566
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2157381
ClinVar RCV Id: RCV003078070 RCV003093267
dbSNP Id: rs1399020736
gnomAD v2: 9-104190784-G-A
gnomAD v3: 9-101428502-G-A
gnomAD v4: 9-101428502-G-A
MyVariant Identifiers: chr9:g.104190784G>A (hg19) chr9:g.101428502G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101428502G>A , CM000671.2:g.101428502G>A GRCh38
NC_000009.11:g.104190784G>A , CM000671.1:g.104190784G>A GRCh37
NC_000009.10:g.103230605G>A NCBI36
NG_012387.1:g.12279C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.346C>T MANE Select ENSP00000497767.1:p.Leu116Phe
ENST00000648064.1:c.346C>T ENSP00000497990.1:p.Leu116Phe
ENST00000648758.1:c.346C>T ENSP00000497731.1:p.Leu116Phe
ENST00000649902.1:c.346C>T ENSP00000497216.1:p.Leu116Phe
ENST00000374855.8:c.346C>T ENSP00000363988.4:p.Leu116Phe
ENST00000468981.3:n.67+1307C>T
ENST00000616752.1:c.346C>T ENSP00000481363.1:p.Leu116Phe
NM_000035.3:c.346C>T NP_000026.2:p.Leu116Phe
NM_000035.4:c.346C>T MANE Select NP_000026.2:p.Leu116Phe
Search 100 bp 5'
Search 100 bp 3'