Canonical Allele Identifier: CA129581
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 30980
ClinVar RCV Id: RCV000023971
dbSNP Id: rs369586696

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101421877A>G , CM000671.2:g.101421877A>G GRCh38
NC_000009.11:g.104184159A>G , CM000671.1:g.104184159A>G GRCh37
NC_000009.10:g.103223980A>G NCBI36
NG_012387.1:g.18904T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.1027T>C MANE Select ENSP00000497767.1:p.Tyr343His
ENST00000648064.1:c.1027T>C ENSP00000497990.1:p.Tyr343His
ENST00000648758.1:c.1027T>C ENSP00000497731.1:p.Tyr343His
ENST00000374855.8:c.1027T>C ENSP00000363988.4:p.Tyr343His
ENST00000616752.1:c.*39T>C ENSP00000481363.1:p.=
NM_000035.3:c.1027T>C NP_000026.2:p.Tyr343His
NM_000035.4:c.1027T>C MANE Select NP_000026.2:p.Tyr343His