Canonical Allele Identifier: CA5161701

Gene: ALDOB

Linked Data

• dbSNP Id: rs746149471
• ExAC: 9:104192159 T / A
• gnomAD v2: 9-104192159-T-A
• gnomAD v4: 9-101429877-T-A
• MyVariant Identifiers: chr9:g.104192159T>A (hg19) ; chr9:g.101429877T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429877T>A , CM000671.2:g.101429877T>A	GRCh38
NC_000009.11:g.104192159T>A , CM000671.1:g.104192159T>A	GRCh37
NC_000009.10:g.103231980T>A	NCBI36
NG_012387.1:g.10904A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.202A>T MANE Select	ENSP00000497767.1:p.Ser68Cys
ENST00000648064.1:c.202A>T	ENSP00000497990.1:p.Ser68Cys
ENST00000648423.1:c.202A>T	ENSP00000497985.1:p.Ser68Cys
ENST00000648758.1:c.202A>T	ENSP00000497731.1:p.Ser68Cys
ENST00000648906.1:n.372A>T
ENST00000649902.1:c.202A>T	ENSP00000497216.1:p.Ser68Cys
ENST00000650613.1:n.278A>T
ENST00000374855.8:c.202A>T	ENSP00000363988.4:p.Ser68Cys
ENST00000616752.1:c.202A>T	ENSP00000481363.1:p.Ser68Cys
NM_000035.3:c.202A>T	NP_000026.2:p.Ser68Cys
NM_000035.4:c.202A>T MANE Select	NP_000026.2:p.Ser68Cys