Canonical Allele Identifier: CA196956580
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1646495
ClinVar RCV Id: RCV002151158
dbSNP Id: rs952816406
gnomAD v4: 9-101424870-G-A
MyVariant Identifiers: chr9:g.104187152G>A (hg19) chr9:g.101424870G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101424870G>A , CM000671.2:g.101424870G>A GRCh38
NC_000009.11:g.104187152G>A , CM000671.1:g.104187152G>A GRCh37
NC_000009.10:g.103226973G>A NCBI36
NG_012387.1:g.15911C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.972C>T MANE Select ENSP00000497767.1:p.Thr324=
ENST00000648064.1:c.972C>T ENSP00000497990.1:p.Thr324=
ENST00000648758.1:c.972C>T ENSP00000497731.1:p.Thr324=
ENST00000649902.1:c.972C>T ENSP00000497216.1:p.Thr324=
ENST00000374855.8:c.972C>T ENSP00000363988.4:p.Thr324=
ENST00000616752.1:c.935C>T ENSP00000481363.1:p.Pro312Leu
NM_000035.3:c.972C>T NP_000026.2:p.Thr324=
NM_000035.4:c.972C>T MANE Select NP_000026.2:p.Thr324=
Search 100 bp 5'
Search 100 bp 3'