Canonical Allele Identifier: CA5161613
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 732136
ClinVar RCV Id: RCV000907216 RCV003424464
dbSNP Id: rs10123355
ExAC: 9:104189904 G / T
gnomAD v2: 9-104189904-G-T
gnomAD v3: 9-101427622-G-T
gnomAD v4: 9-101427622-G-T
MyVariant Identifiers: chr9:g.104189904G>T (hg19) chr9:g.101427622G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101427622G>T , CM000671.2:g.101427622G>T GRCh38
NC_000009.11:g.104189904G>T , CM000671.1:g.104189904G>T GRCh37
NC_000009.10:g.103229725G>T NCBI36
NG_012387.1:g.13159C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.400C>A MANE Select ENSP00000497767.1:p.Arg134Ser
ENST00000648064.1:c.400C>A ENSP00000497990.1:p.Arg134Ser
ENST00000648758.1:c.400C>A ENSP00000497731.1:p.Arg134Ser
ENST00000649902.1:c.400C>A ENSP00000497216.1:p.Arg134Ser
ENST00000374855.8:c.400C>A ENSP00000363988.4:p.Arg134Ser
ENST00000468981.3:n.68-984C>A
ENST00000616752.1:c.400C>A ENSP00000481363.1:p.Arg134Ser
NM_000035.3:c.400C>A NP_000026.2:p.Arg134Ser
NM_000035.4:c.400C>A MANE Select NP_000026.2:p.Arg134Ser
Search 100 bp 5'
Search 100 bp 3'