Canonical Allele Identifier: CA339812

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 469
• ClinVar RCV Id: RCV000000498 ; RCV000723841 ; RCV003398398
• dbSNP Id: rs78340951
• ExAC: 9:104184181 G / C
• gnomAD v2: 9-104184181-G-C
• gnomAD v3: 9-101421899-G-C
• gnomAD v4: 9-101421899-G-C
• MyVariant Identifiers: chr9:g.104184181G>C (hg19) ; chr9:g.101421899G>C (hg38)
• PubMed: PMID:1856829 ; PMID:2336380 ; PMID:11757579 ; PMID:12205126 ; PMID:15880727 ; PMID:18541450 ; PMID:20033295 ; PMID:23430936 ; PMID:26677512

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101421899G>C , CM000671.2:g.101421899G>C	GRCh38
NC_000009.11:g.104184181G>C , CM000671.1:g.104184181G>C	GRCh37
NC_000009.10:g.103224002G>C	NCBI36
NG_012387.1:g.18882C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.1005C>G MANE Select	ENSP00000497767.1:p.Asn335Lys
ENST00000648064.1:c.1005C>G	ENSP00000497990.1:p.Asn335Lys
ENST00000648758.1:c.1005C>G	ENSP00000497731.1:p.Asn335Lys
ENST00000374855.8:c.1005C>G	ENSP00000363988.4:p.Asn335Lys
ENST00000616752.1:c.*17C>G	ENSP00000481363.1:n.*17C>G
NM_000035.3:c.1005C>G	NP_000026.2:p.Asn335Lys
NM_000035.4:c.1005C>G MANE Select	NP_000026.2:p.Asn335Lys