Canonical Allele Identifier: CA196957692
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1065849
ClinVar RCV Id: RCV001376703
dbSNP Id: rs528914024
gnomAD v2: 9-104190799-G-A
gnomAD v3: 9-101428517-G-A
gnomAD v4: 9-101428517-G-A
MyVariant Identifiers: chr9:g.104190799G>A (hg19) chr9:g.101428517G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101428517G>A , CM000671.2:g.101428517G>A GRCh38
NC_000009.11:g.104190799G>A , CM000671.1:g.104190799G>A GRCh37
NC_000009.10:g.103230620G>A NCBI36
NG_012387.1:g.12264C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.331C>T MANE Select ENSP00000497767.1:p.Gln111Ter
ENST00000648064.1:c.331C>T ENSP00000497990.1:p.Gln111Ter
ENST00000648758.1:c.331C>T ENSP00000497731.1:p.Gln111Ter
ENST00000649902.1:c.331C>T ENSP00000497216.1:p.Gln111Ter
ENST00000374855.8:c.331C>T ENSP00000363988.4:p.Gln111Ter
ENST00000468981.3:n.67+1292C>T
ENST00000616752.1:c.331C>T ENSP00000481363.1:p.Gln111Ter
NM_000035.3:c.331C>T NP_000026.2:p.Gln111Ter
NM_000035.4:c.331C>T MANE Select NP_000026.2:p.Gln111Ter
Search 100 bp 5'
Search 100 bp 3'