Canonical Allele Identifier: CA5161565

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 501678
• ClinVar RCV Id: RCV000595425 ; RCV001084554 ; RCV003962720
• dbSNP Id: rs574635615
• ExAC: 9:104189766 G / T
• gnomAD v2: 9-104189766-G-T
• gnomAD v3: 9-101427484-G-T
• gnomAD v4: 9-101427484-G-T
• MyVariant Identifiers: chr9:g.104189766G>T (hg19) ; chr9:g.101427484G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101427484G>T , CM000671.2:g.101427484G>T	GRCh38
NC_000009.11:g.104189766G>T , CM000671.1:g.104189766G>T	GRCh37
NC_000009.10:g.103229587G>T	NCBI36
NG_012387.1:g.13297C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.538C>A MANE Select	ENSP00000497767.1:p.Gln180Lys
ENST00000648064.1:c.538C>A	ENSP00000497990.1:p.Gln180Lys
ENST00000648758.1:c.538C>A	ENSP00000497731.1:p.Gln180Lys
ENST00000649902.1:c.538C>A	ENSP00000497216.1:p.Gln180Lys
ENST00000374855.8:c.538C>A	ENSP00000363988.4:p.Gln180Lys
ENST00000468981.3:n.68-846C>A
ENST00000616752.1:c.538C>A	ENSP00000481363.1:p.Gln180Lys
NM_000035.3:c.538C>A	NP_000026.2:p.Gln180Lys
NM_000035.4:c.538C>A MANE Select	NP_000026.2:p.Gln180Lys