Canonical Allele Identifier: CA5161521
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 364310
ClinVar RCV Id: RCV000299779 RCV000429664 RCV003950290
dbSNP Id: rs3739721
ExAC: 9:104188842 C / G
gnomAD v2: 9-104188842-C-G
gnomAD v3: 9-101426560-C-G
gnomAD v4: 9-101426560-C-G
MyVariant Identifiers: chr9:g.104188842C>G (hg19) chr9:g.101426560C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101426560C>G , CM000671.2:g.101426560C>G GRCh38
NC_000009.11:g.104188842C>G , CM000671.1:g.104188842C>G GRCh37
NC_000009.10:g.103228663C>G NCBI36
NG_012387.1:g.14221G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.619G>C MANE Select ENSP00000497767.1:p.Glu207Gln
ENST00000648064.1:c.619G>C ENSP00000497990.1:p.Glu207Gln
ENST00000648758.1:c.619G>C ENSP00000497731.1:p.Glu207Gln
ENST00000649902.1:c.619G>C ENSP00000497216.1:p.Glu207Gln
ENST00000374855.8:c.619G>C ENSP00000363988.4:p.Glu207Gln
ENST00000468981.3:n.146G>C
ENST00000616752.1:c.619G>C ENSP00000481363.1:p.Glu207Gln
NM_000035.3:c.619G>C NP_000026.2:p.Glu207Gln
NM_000035.4:c.619G>C MANE Select NP_000026.2:p.Glu207Gln
Search 100 bp 5'
Search 100 bp 3'