Canonical Allele Identifier: CA196957401
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1603174
ClinVar RCV Id: RCV002141844
dbSNP Id: rs770794608
gnomAD v2: 9-104189863-C-T
gnomAD v4: 9-101427581-C-T
MyVariant Identifiers: chr9:g.104189863C>T (hg19) chr9:g.101427581C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101427581C>T , CM000671.2:g.101427581C>T GRCh38
NC_000009.11:g.104189863C>T , CM000671.1:g.104189863C>T GRCh37
NC_000009.10:g.103229684C>T NCBI36
NG_012387.1:g.13200G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.441G>A MANE Select ENSP00000497767.1:p.Lys147=
ENST00000648064.1:c.441G>A ENSP00000497990.1:p.Lys147=
ENST00000648758.1:c.441G>A ENSP00000497731.1:p.Lys147=
ENST00000649902.1:c.441G>A ENSP00000497216.1:p.Lys147=
ENST00000374855.8:c.441G>A ENSP00000363988.4:p.Lys147=
ENST00000468981.3:n.68-943G>A
ENST00000616752.1:c.441G>A ENSP00000481363.1:p.Lys147=
NM_000035.3:c.441G>A NP_000026.2:p.Lys147=
NM_000035.4:c.441G>A MANE Select NP_000026.2:p.Lys147=
Search 100 bp 5'
Search 100 bp 3'