Canonical Allele Identifier: CA2683077265

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960706-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960706C>A , CM000669.2:g.65960706C>A	GRCh38
NC_000007.13:g.65425693C>A , CM000669.1:g.65425693C>A	GRCh37
NC_000007.12:g.65063128C>A	NCBI36
NG_016197.1:g.26609G>T
NG_051954.1:g.92608C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.*191G>T MANE Select	ENSP00000302728.4:n.*191G>T
ENST00000304895.8:c.*191G>T	ENSP00000302728.4:n.*191G>T
ENST00000421103.5:c.*191G>T	ENSP00000391390.1:n.*191G>T
ENST00000430730.5:c.*1414G>T	ENSP00000411859.1:n.*1414G>T
ENST00000447929.5:c.*1527G>T	ENSP00000411262.1:n.*1527G>T
ENST00000466883.5:n.2537G>T
NM_000181.3:c.*191G>T	NP_000172.2:n.*191G>T
NM_001284290.1:c.*191G>T	NP_001271219.1:n.*191G>T
NM_001293104.1:c.*191G>T	NP_001280033.1:n.*191G>T
NM_001293105.1:c.*191G>T	NP_001280034.1:n.*191G>T
NR_120531.1:n.2193G>T
XM_005250297.3:c.*191G>T	XP_005250354.1:n.*191G>T
XM_011516113.1:c.*191G>T	XP_011514415.1:n.*191G>T
XM_011516114.1:c.*191G>T	XP_011514416.1:n.*191G>T
XM_005250297.4:c.*191G>T	XP_005250354.1:n.*191G>T
XM_011516114.2:c.*191G>T	XP_011514416.1:n.*191G>T
XM_017012091.1:c.*191G>T	XP_016867580.1:n.*191G>T
XM_017012092.1:c.*191G>T	XP_016867581.1:n.*191G>T
XM_017012093.2:c.*191G>T	XP_016867582.1:n.*191G>T
XR_001744658.2:n.1954G>T
XR_001744659.2:n.2067G>T
XR_001744660.2:n.1999G>T
XR_001744661.2:n.1914G>T
XR_927461.3:n.2152G>T
NM_000181.4:c.*191G>T MANE Select	NP_000172.2:n.*191G>T
NM_001284290.2:c.*191G>T	NP_001271219.1:n.*191G>T
NM_001293104.2:c.*191G>T	NP_001280033.1:n.*191G>T
NM_001293105.2:c.*191G>T	NP_001280034.1:n.*191G>T
NR_120531.2:n.2092G>T