Canonical Allele Identifier: CA1139661092
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 913567
ClinVar RCV Id: RCV001167246
dbSNP Id: rs1831050459
gnomAD v4: 9-101421783-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101421783G>A , CM000671.2:g.101421783G>A GRCh38
NC_000009.11:g.104184065G>A , CM000671.1:g.104184065G>A GRCh37
NC_000009.10:g.103223886G>A NCBI36
NG_012387.1:g.18998C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.*26C>T MANE Select ENSP00000497767.1:n.*26C>T
ENST00000648064.1:c.*26C>T ENSP00000497990.1:n.*26C>T
ENST00000648758.1:c.*26C>T ENSP00000497731.1:n.*26C>T
ENST00000374855.8:c.*26C>T ENSP00000363988.4:n.*26C>T
ENST00000616752.1:c.*133C>T ENSP00000481363.1:n.*133C>T
NM_000035.3:c.*26C>T NP_000026.2:n.*26C>T
NM_000035.4:c.*26C>T MANE Select NP_000026.2:n.*26C>T
Search 100 bp 5'
Search 100 bp 3'