Canonical Allele Identifier: CA5161434
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1065858
ClinVar RCV Id: RCV001376712
dbSNP Id: rs555935217
ExAC: 9:104187214 G / A
gnomAD v2: 9-104187214-G-A
gnomAD v3: 9-101424932-G-A
gnomAD v4: 9-101424932-G-A
COSMIC: COSM1716477
MyVariant Identifiers: chr9:g.104187214G>A (hg19) chr9:g.101424932G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101424932G>A , CM000671.2:g.101424932G>A GRCh38
NC_000009.11:g.104187214G>A , CM000671.1:g.104187214G>A GRCh37
NC_000009.10:g.103227035G>A NCBI36
NG_012387.1:g.15849C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.910C>T MANE Select ENSP00000497767.1:p.Arg304Trp
ENST00000648064.1:c.910C>T ENSP00000497990.1:p.Arg304Trp
ENST00000648758.1:c.910C>T ENSP00000497731.1:p.Arg304Trp
ENST00000649902.1:c.910C>T ENSP00000497216.1:p.Arg304Trp
ENST00000374855.8:c.910C>T ENSP00000363988.4:p.Arg304Trp
ENST00000616752.1:c.904+6C>T ENSP00000481363.1:n.904+6C>T
NM_000035.3:c.910C>T NP_000026.2:p.Arg304Trp
NM_000035.4:c.910C>T MANE Select NP_000026.2:p.Arg304Trp
Search 100 bp 5'
Search 100 bp 3'