Canonical Allele Identifier: CA2683077260

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960702-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960702A>T , CM000669.2:g.65960702A>T	GRCh38
NC_000007.13:g.65425689A>T , CM000669.1:g.65425689A>T	GRCh37
NC_000007.12:g.65063124A>T	NCBI36
NG_016197.1:g.26613T>A
NG_051954.1:g.92604A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.*195T>A MANE Select	ENSP00000302728.4:n.*195T>A
ENST00000304895.8:c.*195T>A	ENSP00000302728.4:n.*195T>A
ENST00000421103.5:c.*195T>A	ENSP00000391390.1:n.*195T>A
ENST00000430730.5:c.*1418T>A	ENSP00000411859.1:n.*1418T>A
ENST00000447929.5:c.*1531T>A	ENSP00000411262.1:n.*1531T>A
ENST00000466883.5:n.2541T>A
NM_000181.3:c.*195T>A	NP_000172.2:n.*195T>A
NM_001284290.1:c.*195T>A	NP_001271219.1:n.*195T>A
NM_001293104.1:c.*195T>A	NP_001280033.1:n.*195T>A
NM_001293105.1:c.*195T>A	NP_001280034.1:n.*195T>A
NR_120531.1:n.2197T>A
XM_005250297.3:c.*195T>A	XP_005250354.1:n.*195T>A
XM_011516113.1:c.*195T>A	XP_011514415.1:n.*195T>A
XM_011516114.1:c.*195T>A	XP_011514416.1:n.*195T>A
XM_005250297.4:c.*195T>A	XP_005250354.1:n.*195T>A
XM_011516114.2:c.*195T>A	XP_011514416.1:n.*195T>A
XM_017012091.1:c.*195T>A	XP_016867580.1:n.*195T>A
XM_017012092.1:c.*195T>A	XP_016867581.1:n.*195T>A
XM_017012093.2:c.*195T>A	XP_016867582.1:n.*195T>A
XR_001744658.2:n.1958T>A
XR_001744659.2:n.2071T>A
XR_001744660.2:n.2003T>A
XR_001744661.2:n.1918T>A
XR_927461.3:n.2156T>A
NM_000181.4:c.*195T>A MANE Select	NP_000172.2:n.*195T>A
NM_001284290.2:c.*195T>A	NP_001271219.1:n.*195T>A
NM_001293104.2:c.*195T>A	NP_001280033.1:n.*195T>A
NM_001293105.2:c.*195T>A	NP_001280034.1:n.*195T>A
NR_120531.2:n.2096T>A