Canonical Allele Identifier: CA374265861

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 983979
• ClinVar RCV Id: RCV001263984
• dbSNP Id: rs1831191030
• MyVariant Identifiers: chr9:g.104192147G>A (hg19) ; chr9:g.101429865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429865G>A , CM000671.2:g.101429865G>A	GRCh38
NC_000009.11:g.104192147G>A , CM000671.1:g.104192147G>A	GRCh37
NC_000009.10:g.103231968G>A	NCBI36
NG_012387.1:g.10916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.214C>T MANE Select	ENSP00000497767.1:p.Gln72Ter
ENST00000648064.1:c.214C>T	ENSP00000497990.1:p.Gln72Ter
ENST00000648423.1:c.214C>T	ENSP00000497985.1:p.Gln72Ter
ENST00000648758.1:c.214C>T	ENSP00000497731.1:p.Gln72Ter
ENST00000648906.1:n.384C>T
ENST00000649902.1:c.214C>T	ENSP00000497216.1:p.Gln72Ter
ENST00000650613.1:n.290C>T
ENST00000374855.8:c.214C>T	ENSP00000363988.4:p.Gln72Ter
ENST00000468981.3:n.11C>T
ENST00000616752.1:c.214C>T	ENSP00000481363.1:p.Gln72Ter
NM_000035.3:c.214C>T	NP_000026.2:p.Gln72Ter
NM_000035.4:c.214C>T MANE Select	NP_000026.2:p.Gln72Ter