Canonical Allele Identifier: CA339811
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 465
dbSNP Id: rs76917243

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101427498G>T , CM000671.2:g.101427498G>T GRCh38
NC_000009.11:g.104189780G>T , CM000671.1:g.104189780G>T GRCh37
NC_000009.10:g.103229601G>T NCBI36
NG_012387.1:g.13283C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.524C>A MANE Select ENSP00000497767.1:p.Ala175Asp
ENST00000648064.1:c.524C>A ENSP00000497990.1:p.Ala175Asp
ENST00000648758.1:c.524C>A ENSP00000497731.1:p.Ala175Asp
ENST00000649902.1:c.524C>A ENSP00000497216.1:p.Ala175Asp
ENST00000374855.8:c.524C>A ENSP00000363988.4:p.Ala175Asp
ENST00000468981.3:n.68-860C>A
ENST00000616752.1:c.524C>A ENSP00000481363.1:p.Ala175Asp
NM_000035.3:c.524C>A NP_000026.2:p.Ala175Asp
NM_000035.4:c.524C>A MANE Select NP_000026.2:p.Ala175Asp