Canonical Allele Identifier: CA367654970

Gene: GUSB

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982045A>T , CM000669.2:g.65982045A>T	GRCh38
NC_000007.13:g.65447032A>T , CM000669.1:g.65447032A>T	GRCh37
NC_000007.12:g.65084467A>T	NCBI36
NG_016197.1:g.5270T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.139T>A MANE Select	ENSP00000302728.4:p.Phe47Ile
ENST00000304895.8:c.139T>A	ENSP00000302728.4:p.Phe47Ile
ENST00000421103.5:c.139T>A	ENSP00000391390.1:p.Phe47Ile
ENST00000430730.5:c.139T>A	ENSP00000411859.1:p.Phe47Ile
ENST00000446111.1:c.139T>A	ENSP00000416793.1:p.Phe47Ile
ENST00000447929.5:c.139T>A	ENSP00000411262.1:p.Phe47Ile
ENST00000475316.5:n.44T>A
NM_000181.3:c.139T>A	NP_000172.2:p.Phe47Ile
NM_001284290.1:c.139T>A	NP_001271219.1:p.Phe47Ile
NM_001293104.1:c.-247T>A	NP_001280033.1:n.-247T>A
NM_001293105.1:c.-191T>A	NP_001280034.1:n.-191T>A
NR_120531.1:n.270T>A
XM_005250297.3:c.139T>A	XP_005250354.1:p.Phe47Ile
XM_011516113.1:c.-191T>A	XP_011514415.1:n.-191T>A
XR_927461.1:n.265T>A
XM_005250297.4:c.139T>A	XP_005250354.1:p.Phe47Ile
XM_011516114.2:c.-547T>A	XP_011514416.1:n.-547T>A
XM_017012091.1:c.-191T>A	XP_016867580.1:n.-191T>A
XM_017012092.1:c.-247T>A	XP_016867581.1:n.-247T>A
XM_017012093.2:c.-547T>A	XP_016867582.1:n.-547T>A
XR_001744658.2:n.184T>A
XR_001744659.2:n.184T>A
XR_001744660.2:n.184T>A
XR_001744661.2:n.184T>A
XR_927461.3:n.184T>A
NM_000181.4:c.139T>A MANE Select	NP_000172.2:p.Phe47Ile
NM_001284290.2:c.139T>A	NP_001271219.1:p.Phe47Ile
NM_001293104.2:c.-247T>A	NP_001280033.1:n.-247T>A
NM_001293105.2:c.-191T>A	NP_001280034.1:n.-191T>A
NR_120531.2:n.169T>A