Canonical Allele Identifier: CA367646944

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65976188G>A , CM000669.2:g.65976188G>A	GRCh38
NC_000007.13:g.65441175G>A , CM000669.1:g.65441175G>A	GRCh37
NC_000007.12:g.65078610G>A	NCBI36
NG_016197.1:g.11127C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.739C>T MANE Select	NP_000172.2:p.Gln247Ter
ENST00000304895.9:c.739C>T MANE Select	ENSP00000302728.4:p.Gln247Ter
NM_000181.3:c.739C>T	NP_000172.2:p.Gln247Ter
NM_001284290.1:c.475-1117C>T	NP_001271219.1:n.475-1117C>T
NM_001284290.2:c.475-1117C>T	NP_001271219.1:n.475-1117C>T
NM_001293104.1:c.169C>T	NP_001280033.1:p.Gln57Ter
NM_001293104.2:c.169C>T	NP_001280033.1:p.Gln57Ter
NM_001293105.1:c.82C>T	NP_001280034.1:p.Gln28Ter
NM_001293105.2:c.82C>T	NP_001280034.1:p.Gln28Ter
NR_120531.1:n.870C>T
NR_120531.2:n.769C>T
ENST00000304895.8:c.739C>T	ENSP00000302728.4:p.Gln247Ter
ENST00000421103.5:c.475-1117C>T	ENSP00000391390.1:n.475-1117C>T
ENST00000430730.5:c.*6C>T	ENSP00000411859.1:n.*6C>T
ENST00000446111.1:c.*132C>T	ENSP00000416793.1:n.*132C>T
ENST00000447929.5:c.*119C>T	ENSP00000411262.1:n.*119C>T
ENST00000465785.5:n.125C>T
ENST00000475316.5:n.130C>T
ENST00000476486.5:n.543C>T
ENST00000479038.1:n.189-1484C>T
XM_005250297.3:c.739C>T	XP_005250354.1:p.Gln247Ter
XM_005250297.4:c.739C>T	XP_005250354.1:p.Gln247Ter
XM_011516113.1:c.238C>T	XP_011514415.1:p.Gln80Ter
XM_011516114.1:c.67C>T	XP_011514416.1:p.Gln23Ter
XM_011516114.2:c.67C>T	XP_011514416.1:p.Gln23Ter
XM_017012091.1:c.238C>T	XP_016867580.1:p.Gln80Ter
XM_017012092.1:c.169C>T	XP_016867581.1:p.Gln57Ter
XM_017012093.2:c.67C>T	XP_016867582.1:p.Gln23Ter
XR_001744658.2:n.784C>T
XR_001744659.2:n.784C>T
XR_001744660.2:n.784C>T
XR_001744661.2:n.784C>T
XR_927461.1:n.865C>T
XR_927461.3:n.784C>T