Canonical Allele Identifier: CA374264074
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2283831
ClinVar RCV Id: RCV002853819
dbSNP Id: rs1243910791
gnomAD v3: 9-101421874-C-T
gnomAD v4: 9-101421874-C-T
MyVariant Identifiers: chr9:g.104184156C>T (hg19) chr9:g.101421874C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101421874C>T , CM000671.2:g.101421874C>T GRCh38
NC_000009.11:g.104184156C>T , CM000671.1:g.104184156C>T GRCh37
NC_000009.10:g.103223977C>T NCBI36
NG_012387.1:g.18907G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.1030G>A MANE Select ENSP00000497767.1:p.Val344Ile
ENST00000648064.1:c.1030G>A ENSP00000497990.1:p.Val344Ile
ENST00000648758.1:c.1030G>A ENSP00000497731.1:p.Val344Ile
ENST00000374855.8:c.1030G>A ENSP00000363988.4:p.Val344Ile
ENST00000616752.1:c.*42G>A ENSP00000481363.1:n.*42G>A
NM_000035.3:c.1030G>A NP_000026.2:p.Val344Ile
NM_000035.4:c.1030G>A MANE Select NP_000026.2:p.Val344Ile
Search 100 bp 5'
Search 100 bp 3'