Canonical Allele Identifier: CA2905360
Gene: GUF1 HGNC NCBI
GNPDA2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.44683208T>A
GRCh37 chr4:g.44685225T>A
gnomAD v2:
4:44685225 T / A
gnomAD v3:
4:44683208 T / A
gnomAD v4:
chr4-44683208-T-A
Joint Max Group AF 0.99824015 (NFE)
Genomes Max Group AF 0.99356393 (NFE)
Exomes Max Group AF 0.99818187 (NFE)
ClinVar RCV:
RCV001702206
ClinVar Variation:
1285316
dbSNP:
58659516
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.44683208T>A , CM000666.2:g.44683208T>A GRCh38
NC_000004.11:g.44685225T>A , CM000666.1:g.44685225T>A GRCh37
NC_000004.10:g.44379982T>A NCBI36
NG_051569.1:g.9814T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281543.6:c.586-27T>A (GUF1) MANE Select ENSP00000281543.5:n.586-27T>A
ENST00000281543.5:c.586-27T>A (GUF1) ENSP00000281543.5:n.586-27T>A
ENST00000506793.5:n.468-27T>A (GUF1)
ENST00000513775.1:c.*177-27T>A (GUF1) ENSP00000422681.1:n.*177-27T>A
ENST00000608855.1:c.128-566A>T (GNPDA2) ENSP00000477137.1:n.128-566A>T
ENST00000609092.5:c.247-566A>T (GNPDA2)
NM_021927.2:c.586-27T>A (GUF1) NP_068746.2:n.586-27T>A
XM_005248122.2:c.-387-27T>A (GUF1) XP_005248179.1:n.-387-27T>A
XM_011513625.1:c.770-566A>T (GNPDA2) XP_011511927.1:n.770-566A>T
XM_011513626.1:c.560-566A>T (GNPDA2) XP_011511928.1:n.560-566A>T
XM_011513732.1:c.586-27T>A (GUF1) XP_011512034.1:n.586-27T>A
XM_011513733.1:c.436-27T>A (GUF1) XP_011512035.1:n.436-27T>A
XM_011513734.1:c.586-27T>A (GUF1) XP_011512036.1:n.586-27T>A
NM_001345867.1:c.-383-31T>A (GUF1) NP_001332796.1:n.-383-31T>A
NM_001345868.1:c.586-27T>A (GUF1) NP_001332797.1:n.586-27T>A
NM_001345869.1:c.-387-27T>A (GUF1) NP_001332798.1:n.-387-27T>A
XM_024454178.1:c.436-27T>A (GUF1) XP_024309946.1:n.436-27T>A
NM_021927.3:c.586-27T>A (GUF1) MANE Select NP_068746.2:n.586-27T>A
NM_001345867.2:c.-383-31T>A (GUF1) NP_001332796.1:n.-383-31T>A
NM_001345868.2:c.586-27T>A (GUF1) NP_001332797.1:n.586-27T>A
NM_001345869.2:c.-387-27T>A (GUF1) NP_001332798.1:n.-387-27T>A
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