Canonical Allele Identifier: CA1713854584

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960957T= , CM000669.2:g.65960957T=	GRCh38
NC_000007.13:g.65425944T= , CM000669.1:g.65425944T=	GRCh37
NC_000007.12:g.65063379T=	NCBI36
NG_016197.1:g.26358A=
NG_051954.1:g.92859T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1896A= MANE Select	ENSP00000302728.4:p.Glu632=
ENST00000304895.8:c.1896A=	ENSP00000302728.4:p.Glu632=
ENST00000421103.5:c.1458A=	ENSP00000391390.1:p.Glu486=
ENST00000430730.5:c.*1163A=	ENSP00000411859.1:n.*1163A=
ENST00000447929.5:c.*1276A=	ENSP00000411262.1:n.*1276A=
ENST00000466883.5:n.2286A=
NM_000181.3:c.1896A=	NP_000172.2:p.Glu632=
NM_001284290.1:c.1458A=	NP_001271219.1:p.Glu486=
NM_001293104.1:c.1326A=	NP_001280033.1:p.Glu442=
NM_001293105.1:c.1239A=	NP_001280034.1:p.Glu413=
NR_120531.1:n.1942A=
XM_005250297.3:c.1743A=	XP_005250354.1:p.Glu581=
XM_011516113.1:c.1395A=	XP_011514415.1:p.Glu465=
XM_011516114.1:c.1224A=	XP_011514416.1:p.Glu408=
XM_005250297.4:c.1743A=	XP_005250354.1:p.Glu581=
XM_011516114.2:c.1224A=	XP_011514416.1:p.Glu408=
XM_017012091.1:c.1242A=	XP_016867580.1:p.Glu414=
XM_017012092.1:c.1173A=	XP_016867581.1:p.Glu391=
XM_017012093.2:c.1071A=	XP_016867582.1:p.Glu357=
XR_001744658.2:n.1703A=
XR_001744659.2:n.1816A=
XR_001744660.2:n.1748A=
XR_001744661.2:n.1663A=
XR_927461.3:n.1901A=
NM_000181.4:c.1896A= MANE Select	NP_000172.2:p.Glu632=
NM_001284290.2:c.1458A=	NP_001271219.1:p.Glu486=
NM_001293104.2:c.1326A=	NP_001280033.1:p.Glu442=
NM_001293105.2:c.1239A=	NP_001280034.1:p.Glu413=
NR_120531.2:n.1841A=