Canonical Allele Identifier: CA374264320
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2092681
ClinVar RCV Id: RCV002996625
MyVariant Identifiers: chr9:g.104187190C>T (hg19) chr9:g.101424908C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101424908C>T , CM000671.2:g.101424908C>T GRCh38
NC_000009.11:g.104187190C>T , CM000671.1:g.104187190C>T GRCh37
NC_000009.10:g.103227011C>T NCBI36
NG_012387.1:g.15873G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.934G>A MANE Select ENSP00000497767.1:p.Ala312Thr
ENST00000648064.1:c.934G>A ENSP00000497990.1:p.Ala312Thr
ENST00000648758.1:c.934G>A ENSP00000497731.1:p.Ala312Thr
ENST00000649902.1:c.934G>A ENSP00000497216.1:p.Ala312Thr
ENST00000374855.8:c.934G>A ENSP00000363988.4:p.Ala312Thr
ENST00000616752.1:c.905-8G>A ENSP00000481363.1:n.905-8G>A
NM_000035.3:c.934G>A NP_000026.2:p.Ala312Thr
NM_000035.4:c.934G>A MANE Select NP_000026.2:p.Ala312Thr
Search 100 bp 5'
Search 100 bp 3'