Canonical Allele Identifier: CA2691007459
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 3015173
ClinVar RCV Id: RCV003870780
gnomAD v4: 9-101427463-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101427463C>T , CM000671.2:g.101427463C>T GRCh38
NC_000009.11:g.104189745C>T , CM000671.1:g.104189745C>T GRCh37
NC_000009.10:g.103229566C>T NCBI36
NG_012387.1:g.13318G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.540+19G>A MANE Select ENSP00000497767.1:n.540+19G>A
ENST00000648064.1:c.540+19G>A ENSP00000497990.1:n.540+19G>A
ENST00000648758.1:c.540+19G>A ENSP00000497731.1:n.540+19G>A
ENST00000649902.1:c.540+19G>A ENSP00000497216.1:n.540+19G>A
ENST00000374855.8:c.540+19G>A ENSP00000363988.4:n.540+19G>A
ENST00000468981.3:n.68-825G>A
ENST00000616752.1:c.540+19G>A ENSP00000481363.1:n.540+19G>A
NM_000035.3:c.540+19G>A NP_000026.2:n.540+19G>A
NM_000035.4:c.540+19G>A MANE Select NP_000026.2:n.540+19G>A
Search 100 bp 5'
Search 100 bp 3'