Canonical Allele Identifier: CA16041287
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 371023
ClinVar RCV Id: RCV000409543
dbSNP Id: rs138121153

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101428468C>T , CM000671.2:g.101428468C>T GRCh38
NC_000009.11:g.104190750C>T , CM000671.1:g.104190750C>T GRCh37
NC_000009.10:g.103230571C>T NCBI36
NG_012387.1:g.12313G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.379+1G>A MANE Select ENSP00000497767.1:p.=
ENST00000648064.1:c.379+1G>A ENSP00000497990.1:p.=
ENST00000648758.1:c.379+1G>A ENSP00000497731.1:p.=
ENST00000649902.1:c.379+1G>A ENSP00000497216.1:p.=
ENST00000374855.8:c.379+1G>A ENSP00000363988.4:p.=
ENST00000468981.3:n.67+1341G>A
ENST00000616752.1:c.379+1G>A ENSP00000481363.1:p.=
NM_000035.3:c.379+1G>A NP_000026.2:p.=
NM_000035.4:c.379+1G>A MANE Select NP_000026.2:p.=