Canonical Allele Identifier: CA5161544

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 364311
• ClinVar RCV Id: RCV000354676 ; RCV000732883 ; RCV003902421
• dbSNP Id: rs35885472
• ExAC: 9:104188918 A / C
• gnomAD v2: 9-104188918-A-C
• gnomAD v3: 9-101426636-A-C
• gnomAD v4: 9-101426636-A-C
• MyVariant Identifiers: chr9:g.104188918A>C (hg19) ; chr9:g.101426636A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101426636A>C , CM000671.2:g.101426636A>C	GRCh38
NC_000009.11:g.104188918A>C , CM000671.1:g.104188918A>C	GRCh37
NC_000009.10:g.103228739A>C	NCBI36
NG_012387.1:g.14145T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.543T>G MANE Select	ENSP00000497767.1:p.Asn181Lys
ENST00000648064.1:c.543T>G	ENSP00000497990.1:p.Asn181Lys
ENST00000648758.1:c.543T>G	ENSP00000497731.1:p.Asn181Lys
ENST00000649902.1:c.543T>G	ENSP00000497216.1:p.Asn181Lys
ENST00000374855.8:c.543T>G	ENSP00000363988.4:p.Asn181Lys
ENST00000468981.3:n.70T>G
ENST00000616752.1:c.543T>G	ENSP00000481363.1:p.Asn181Lys
NM_000035.3:c.543T>G	NP_000026.2:p.Asn181Lys
NM_000035.4:c.543T>G MANE Select	NP_000026.2:p.Asn181Lys