Canonical Allele Identifier: CA199050

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 188739
• ClinVar RCV Id: RCV000169047 ; RCV000598061
• dbSNP Id: rs77718928
• ExAC: 9:104184173 G / A
• gnomAD v2: 9-104184173-G-A
• gnomAD v3: 9-101421891-G-A
• gnomAD v4: 9-101421891-G-A
• COSMIC: COSM216118
• MyVariant Identifiers: chr9:g.104184173G>A (hg19) ; chr9:g.101421891G>A (hg38)
• PubMed: PMID:9610797 ; PMID:10024431 ; PMID:15532022 ; PMID:18541450 ; PMID:20848650 ; PMID:26785492

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101421891G>A , CM000671.2:g.101421891G>A	GRCh38
NC_000009.11:g.104184173G>A , CM000671.1:g.104184173G>A	GRCh37
NC_000009.10:g.103223994G>A	NCBI36
NG_012387.1:g.18890C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.1013C>T MANE Select	ENSP00000497767.1:p.Ala338Val
ENST00000648064.1:c.1013C>T	ENSP00000497990.1:p.Ala338Val
ENST00000648758.1:c.1013C>T	ENSP00000497731.1:p.Ala338Val
ENST00000374855.8:c.1013C>T	ENSP00000363988.4:p.Ala338Val
ENST00000616752.1:c.*25C>T	ENSP00000481363.1:n.*25C>T
NM_000035.3:c.1013C>T	NP_000026.2:p.Ala338Val
NM_000035.4:c.1013C>T MANE Select	NP_000026.2:p.Ala338Val