Canonical Allele Identifier: CA5161490
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1473940
ClinVar RCV Id: RCV001969657
dbSNP Id: rs748031490
ExAC: 9:104187801 T / C
gnomAD v2: 9-104187801-T-C
MyVariant Identifiers: chr9:g.104187801T>C (hg19) chr9:g.101425519T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101425519T>C , CM000671.2:g.101425519T>C GRCh38
NC_000009.11:g.104187801T>C , CM000671.1:g.104187801T>C GRCh37
NC_000009.10:g.103227622T>C NCBI36
NG_012387.1:g.15262A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.733A>G MANE Select ENSP00000497767.1:p.Thr245Ala
ENST00000648064.1:c.733A>G ENSP00000497990.1:p.Thr245Ala
ENST00000648758.1:c.733A>G ENSP00000497731.1:p.Thr245Ala
ENST00000649902.1:c.733A>G ENSP00000497216.1:p.Thr245Ala
ENST00000374855.8:c.733A>G ENSP00000363988.4:p.Thr245Ala
ENST00000616752.1:c.733A>G ENSP00000481363.1:p.Thr245Ala
NM_000035.3:c.733A>G NP_000026.2:p.Thr245Ala
NM_000035.4:c.733A>G MANE Select NP_000026.2:p.Thr245Ala
Search 100 bp 5'
Search 100 bp 3'