Canonical Allele Identifier: CA199078
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 188837
ClinVar RCV Id: RCV000169186
dbSNP Id: rs786204503

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101425629T>C , CM000671.2:g.101425629T>C GRCh38
NC_000009.11:g.104187911T>C , CM000671.1:g.104187911T>C GRCh37
NC_000009.10:g.103227732T>C NCBI36
NG_012387.1:g.15152A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.625-2A>G MANE Select ENSP00000497767.1:p.=
ENST00000648064.1:c.625-2A>G ENSP00000497990.1:p.=
ENST00000648758.1:c.625-2A>G ENSP00000497731.1:p.=
ENST00000649902.1:c.625-2A>G ENSP00000497216.1:p.=
ENST00000374855.8:c.625-2A>G ENSP00000363988.4:p.=
ENST00000468981.3:n.152-2A>G
ENST00000616752.1:c.625-2A>G ENSP00000481363.1:p.=
NM_000035.3:c.625-2A>G NP_000026.2:p.=
NM_000035.4:c.625-2A>G MANE Select NP_000026.2:p.=