Canonical Allele Identifier: CA2830536714

Gene: GUF1 GNPDA2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.44691955T>A , CM000666.2:g.44691955T>A	GRCh38
NC_000004.11:g.44693972T>A , CM000666.1:g.44693972T>A	GRCh37
NC_000004.10:g.44388729T>A	NCBI36
NG_051569.1:g.18561T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281543.6:c.1613+156T>A (GUF1) MANE Select	ENSP00000281543.5:n.1613+156T>A
ENST00000281543.5:c.1613+156T>A (GUF1)	ENSP00000281543.5:n.1613+156T>A
ENST00000506793.5:n.1495+156T>A (GUF1)
ENST00000608855.1:c.128-9313A>T (GNPDA2)	ENSP00000477137.1:n.128-9313A>T
ENST00000609092.5:c.247-9313A>T (GNPDA2)
NM_021927.2:c.1613+156T>A (GUF1)	NP_068746.2:n.1613+156T>A
XM_005248122.2:c.641+156T>A (GUF1)	XP_005248179.1:n.641+156T>A
XM_011513625.1:c.770-9313A>T (GNPDA2)	XP_011511927.1:n.770-9313A>T
XM_011513626.1:c.560-9313A>T (GNPDA2)	XP_011511928.1:n.560-9313A>T
XM_011513732.1:c.1613+156T>A (GUF1)	XP_011512034.1:n.1613+156T>A
XM_011513733.1:c.1463+156T>A (GUF1)	XP_011512035.1:n.1463+156T>A
XM_011513734.1:c.1479+1095T>A (GUF1)	XP_011512036.1:n.1479+1095T>A
NM_001345867.1:c.641+156T>A (GUF1)	NP_001332796.1:n.641+156T>A
NM_001345868.1:c.1613+156T>A (GUF1)	NP_001332797.1:n.1613+156T>A
NM_001345869.1:c.641+156T>A (GUF1)	NP_001332798.1:n.641+156T>A
XM_024454178.1:c.1463+156T>A (GUF1)	XP_024309946.1:n.1463+156T>A
NM_021927.3:c.1613+156T>A (GUF1) MANE Select	NP_068746.2:n.1613+156T>A
NM_001345867.2:c.641+156T>A (GUF1)	NP_001332796.1:n.641+156T>A
NM_001345868.2:c.1613+156T>A (GUF1)	NP_001332797.1:n.1613+156T>A
NM_001345869.2:c.641+156T>A (GUF1)	NP_001332798.1:n.641+156T>A