Canonical Allele Identifier: CA374265954

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 1065848
• ClinVar RCV Id: RCV001376702
• dbSNP Id: rs370761101
• MyVariant Identifiers: chr9:g.104192191C>G (hg19) ; chr9:g.101429909C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429909C>G , CM000671.2:g.101429909C>G	GRCh38
NC_000009.11:g.104192191C>G , CM000671.1:g.104192191C>G	GRCh37
NC_000009.10:g.103232012C>G	NCBI36
NG_012387.1:g.10872G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.170G>C MANE Select	ENSP00000497767.1:p.Arg57Pro
ENST00000648064.1:c.170G>C	ENSP00000497990.1:p.Arg57Pro
ENST00000648423.1:c.170G>C	ENSP00000497985.1:p.Arg57Pro
ENST00000648758.1:c.170G>C	ENSP00000497731.1:p.Arg57Pro
ENST00000648906.1:n.340G>C
ENST00000649902.1:c.170G>C	ENSP00000497216.1:p.Arg57Pro
ENST00000650613.1:n.246G>C
ENST00000374855.8:c.170G>C	ENSP00000363988.4:p.Arg57Pro
ENST00000616752.1:c.170G>C	ENSP00000481363.1:p.Arg57Pro
NM_000035.3:c.170G>C	NP_000026.2:p.Arg57Pro
NM_000035.4:c.170G>C MANE Select	NP_000026.2:p.Arg57Pro