Canonical Allele Identifier: CA2683079036

Gene: GUSB

Linked Data

• gnomAD v4: 7-65974809-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974809A>T , CM000669.2:g.65974809A>T	GRCh38
NC_000007.13:g.65439796A>T , CM000669.1:g.65439796A>T	GRCh37
NC_000007.12:g.65077231A>T	NCBI36
NG_016197.1:g.12506T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1066-105T>A MANE Select	ENSP00000302728.4:n.1066-105T>A
ENST00000304895.8:c.1066-105T>A	ENSP00000302728.4:n.1066-105T>A
ENST00000421103.5:c.628-105T>A	ENSP00000391390.1:n.628-105T>A
ENST00000430730.5:c.*333-105T>A	ENSP00000411859.1:n.*333-105T>A
ENST00000447929.5:c.*446-105T>A	ENSP00000411262.1:n.*446-105T>A
ENST00000462371.1:n.39T>A
ENST00000465785.5:n.299-105T>A
ENST00000466883.5:n.1352T>A
ENST00000475316.5:n.304-105T>A
ENST00000479038.1:n.189-105T>A
ENST00000489482.1:n.198T>A
NM_000181.3:c.1066-105T>A	NP_000172.2:n.1066-105T>A
NM_001284290.1:c.628-105T>A	NP_001271219.1:n.628-105T>A
NM_001293104.1:c.496-105T>A	NP_001280033.1:n.496-105T>A
NM_001293105.1:c.409-105T>A	NP_001280034.1:n.409-105T>A
NR_120531.1:n.1197-105T>A
XM_005250297.3:c.913-105T>A	XP_005250354.1:n.913-105T>A
XM_011516113.1:c.565-105T>A	XP_011514415.1:n.565-105T>A
XM_011516114.1:c.394-105T>A	XP_011514416.1:n.394-105T>A
XR_927461.1:n.1192-105T>A
XM_005250297.4:c.913-105T>A	XP_005250354.1:n.913-105T>A
XM_011516114.2:c.394-105T>A	XP_011514416.1:n.394-105T>A
XM_017012091.1:c.412-105T>A	XP_016867580.1:n.412-105T>A
XM_017012092.1:c.343-105T>A	XP_016867581.1:n.343-105T>A
XM_017012093.2:c.241-105T>A	XP_016867582.1:n.241-105T>A
XR_001744658.2:n.958-105T>A
XR_001744659.2:n.1111-105T>A
XR_001744660.2:n.958-105T>A
XR_001744661.2:n.958-105T>A
XR_927461.3:n.1111-105T>A
NM_000181.4:c.1066-105T>A MANE Select	NP_000172.2:n.1066-105T>A
NM_001284290.2:c.628-105T>A	NP_001271219.1:n.628-105T>A
NM_001293104.2:c.496-105T>A	NP_001280033.1:n.496-105T>A
NM_001293105.2:c.409-105T>A	NP_001280034.1:n.409-105T>A
NR_120531.2:n.1096-105T>A