Canonical Allele Identifier: CA466462071

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 2875823
• ClinVar RCV Id: RCV003597736
• dbSNP Id: rs1588170486
• MyVariant Identifiers: chr9:g.104187847T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101425565T>G , CM000671.2:g.101425565T>G	GRCh38
NC_000009.11:g.104187847T>G , CM000671.1:g.104187847T>G	GRCh37
NC_000009.10:g.103227668T>G	NCBI36
NG_012387.1:g.15216A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.687A>C MANE Select	ENSP00000497767.1:p.Leu229=
ENST00000648064.1:c.687A>C	ENSP00000497990.1:p.Leu229=
ENST00000648758.1:c.687A>C	ENSP00000497731.1:p.Leu229=
ENST00000649902.1:c.687A>C	ENSP00000497216.1:p.Leu229=
ENST00000374855.8:c.687A>C	ENSP00000363988.4:p.Leu229=
ENST00000468981.3:n.214A>C
ENST00000616752.1:c.687A>C	ENSP00000481363.1:p.Leu229=
NM_000035.3:c.687A>C	NP_000026.2:p.Leu229=
NM_000035.4:c.687A>C MANE Select	NP_000026.2:p.Leu229=