Canonical Allele Identifier: CA16041288
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 370293
ClinVar RCV Id: RCV000409519
dbSNP Id: rs1057516379

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101429753A>T , CM000671.2:g.101429753A>T GRCh38
NC_000009.11:g.104192035A>T , CM000671.1:g.104192035A>T GRCh37
NC_000009.10:g.103231856A>T NCBI36
NG_012387.1:g.11028T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.324+2T>A MANE Select ENSP00000497767.1:n.324+2T>A
ENST00000648064.1:c.324+2T>A ENSP00000497990.1:n.324+2T>A
ENST00000648758.1:c.324+2T>A ENSP00000497731.1:n.324+2T>A
ENST00000648906.1:n.496T>A
ENST00000649902.1:c.324+2T>A ENSP00000497216.1:n.324+2T>A
ENST00000650613.1:n.402T>A
ENST00000374855.8:c.324+2T>A ENSP00000363988.4:n.324+2T>A
ENST00000468981.3:n.67+56T>A
ENST00000616752.1:c.324+2T>A ENSP00000481363.1:n.324+2T>A
NM_000035.3:c.324+2T>A NP_000026.2:n.324+2T>A
NM_000035.4:c.324+2T>A MANE Select NP_000026.2:n.324+2T>A