Canonical Allele Identifier: CA2499219517
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1065871
ClinVar RCV Id: RCV001376725
dbSNP Id: rs2118345550

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101425491dup , CM000671.2:g.101425491dup GRCh38
NC_000009.11:g.104187773dup , CM000671.1:g.104187773dup GRCh37
NC_000009.10:g.103227594dup NCBI36
NG_012387.1:g.15290dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.761dup MANE Select ENSP00000497767.1:p.Thr255AsnfsTer23
ENST00000648064.1:c.761dup ENSP00000497990.1:p.Thr255AsnfsTer23
ENST00000648758.1:c.761dup ENSP00000497731.1:p.Thr255AsnfsTer23
ENST00000649902.1:c.761dup ENSP00000497216.1:p.Thr255AsnfsTer23
ENST00000374855.8:c.761dup ENSP00000363988.4:p.Thr255AsnfsTer23
ENST00000616752.1:c.761dup ENSP00000481363.1:p.Thr255AsnfsTer23
NM_000035.3:c.761dup NP_000026.2:p.Thr255AsnfsTer23
NM_000035.4:c.761dup MANE Select NP_000026.2:p.Thr255AsnfsTer23