Canonical Allele Identifier: CA374264620
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1920883
ClinVar RCV Id: RCV002621189

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101425458A>G , CM000671.2:g.101425458A>G GRCh38
NC_000009.11:g.104187740A>G , CM000671.1:g.104187740A>G GRCh37
NC_000009.10:g.103227561A>G NCBI36
NG_012387.1:g.15323T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.794T>C MANE Select ENSP00000497767.1:p.Val265Ala
ENST00000648064.1:c.794T>C ENSP00000497990.1:p.Val265Ala
ENST00000648758.1:c.794T>C ENSP00000497731.1:p.Val265Ala
ENST00000649902.1:c.794T>C ENSP00000497216.1:p.Val265Ala
ENST00000374855.8:c.794T>C ENSP00000363988.4:p.Val265Ala
ENST00000616752.1:c.794T>C ENSP00000481363.1:p.Val265Ala
NM_000035.3:c.794T>C NP_000026.2:p.Val265Ala
NM_000035.4:c.794T>C MANE Select NP_000026.2:p.Val265Ala