Canonical Allele Identifier: CA356765057

Gene: GUF1 GNPDA2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.44695724G>A , CM000666.2:g.44695724G>A	GRCh38
NC_000004.11:g.44697741G>A , CM000666.1:g.44697741G>A	GRCh37
NC_000004.10:g.44392498G>A	NCBI36
NG_051569.1:g.22330G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021927.3:c.1825G>A (GUF1) MANE Select	NP_068746.2:p.Ala609Thr
ENST00000281543.6:c.1825G>A (GUF1) MANE Select	ENSP00000281543.5:p.Ala609Thr
NM_001345867.1:c.853G>A (GUF1)	NP_001332796.1:p.Ala285Thr
NM_001345867.2:c.853G>A (GUF1)	NP_001332796.1:p.Ala285Thr
NM_001345868.1:c.1715+1211G>A (GUF1)	NP_001332797.1:n.1715+1211G>A
NM_001345868.2:c.1715+1211G>A (GUF1)	NP_001332797.1:n.1715+1211G>A
NM_001345869.1:c.853G>A (GUF1)	NP_001332798.1:p.Ala285Thr
NM_001345869.2:c.853G>A (GUF1)	NP_001332798.1:p.Ala285Thr
NM_021927.2:c.1825G>A (GUF1)	NP_068746.2:p.Ala609Thr
ENST00000281543.5:c.1825G>A (GUF1)	ENSP00000281543.5:p.Ala609Thr
ENST00000506793.5:n.1707G>A (GUF1)
ENST00000511493.1:n.105+1211G>A (GUF1)
ENST00000608855.1:c.127+12028C>T (GNPDA2)	ENSP00000477137.1:n.127+12028C>T
ENST00000609092.5:c.246+12028C>T (GNPDA2)
XM_005248122.2:c.853G>A (GUF1)	XP_005248179.1:p.Ala285Thr
XM_011513625.1:c.769+12028C>T (GNPDA2)	XP_011511927.1:n.769+12028C>T
XM_011513626.1:c.559+12028C>T (GNPDA2)	XP_011511928.1:n.559+12028C>T
XM_011513732.1:c.1715+1211G>A (GUF1)	XP_011512034.1:n.1715+1211G>A
XM_011513733.1:c.1675G>A (GUF1)	XP_011512035.1:p.Ala559Thr
XM_024454178.1:c.1675G>A (GUF1)	XP_024309946.1:p.Ala559Thr