Canonical Allele Identifier: CA466462004
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1901105
ClinVar RCV Id: RCV002586147
MyVariant Identifiers: chr9:g.104187778G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101425496G>A , CM000671.2:g.101425496G>A GRCh38
NC_000009.11:g.104187778G>A , CM000671.1:g.104187778G>A GRCh37
NC_000009.10:g.103227599G>A NCBI36
NG_012387.1:g.15285C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.756C>T MANE Select ENSP00000497767.1:p.Ala252=
ENST00000648064.1:c.756C>T ENSP00000497990.1:p.Ala252=
ENST00000648758.1:c.756C>T ENSP00000497731.1:p.Ala252=
ENST00000649902.1:c.756C>T ENSP00000497216.1:p.Ala252=
ENST00000374855.8:c.756C>T ENSP00000363988.4:p.Ala252=
ENST00000616752.1:c.756C>T ENSP00000481363.1:p.Ala252=
NM_000035.3:c.756C>T NP_000026.2:p.Ala252=
NM_000035.4:c.756C>T MANE Select NP_000026.2:p.Ala252=