Canonical Allele Identifier: CA199058

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 188782
• ClinVar RCV Id: RCV000169110 ; RCV000723842
• dbSNP Id: rs370793608
• gnomAD v3: 9-101426567-A-T
• gnomAD v4: 9-101426567-A-T
• MyVariant Identifiers: chr9:g.104188849A>T (hg19) ; chr9:g.101426567A>T (hg38)
• PubMed: PMID:8438046 ; PMID:15880727 ; PMID:16406649 ; PMID:16630753 ; PMID:20848650 ; PMID:23114028

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101426567A>T , CM000671.2:g.101426567A>T	GRCh38
NC_000009.11:g.104188849A>T , CM000671.1:g.104188849A>T	GRCh37
NC_000009.10:g.103228670A>T	NCBI36
NG_012387.1:g.14214T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.612T>A MANE Select	ENSP00000497767.1:p.Tyr204Ter
ENST00000648064.1:c.612T>A	ENSP00000497990.1:p.Tyr204Ter
ENST00000648758.1:c.612T>A	ENSP00000497731.1:p.Tyr204Ter
ENST00000649902.1:c.612T>A	ENSP00000497216.1:p.Tyr204Ter
ENST00000374855.8:c.612T>A	ENSP00000363988.4:p.Tyr204Ter
ENST00000468981.3:n.139T>A
ENST00000616752.1:c.612T>A	ENSP00000481363.1:p.Tyr204Ter
NM_000035.3:c.612T>A	NP_000026.2:p.Tyr204Ter
NM_000035.4:c.612T>A MANE Select	NP_000026.2:p.Tyr204Ter