Canonical Allele Identifier: CA1713854592

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960959C= , CM000669.2:g.65960959C=	GRCh38
NC_000007.13:g.65425946C= , CM000669.1:g.65425946C=	GRCh37
NC_000007.12:g.65063381C=	NCBI36
NG_016197.1:g.26356G=
NG_051954.1:g.92861C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1894G= MANE Select	ENSP00000302728.4:p.Glu632=
ENST00000304895.8:c.1894G=	ENSP00000302728.4:p.Glu632=
ENST00000421103.5:c.1456G=	ENSP00000391390.1:p.Glu486=
ENST00000430730.5:c.*1161G=	ENSP00000411859.1:n.*1161G=
ENST00000447929.5:c.*1274G=	ENSP00000411262.1:n.*1274G=
ENST00000466883.5:n.2284G=
NM_000181.3:c.1894G=	NP_000172.2:p.Glu632=
NM_001284290.1:c.1456G=	NP_001271219.1:p.Glu486=
NM_001293104.1:c.1324G=	NP_001280033.1:p.Glu442=
NM_001293105.1:c.1237G=	NP_001280034.1:p.Glu413=
NR_120531.1:n.1940G=
XM_005250297.3:c.1741G=	XP_005250354.1:p.Glu581=
XM_011516113.1:c.1393G=	XP_011514415.1:p.Glu465=
XM_011516114.1:c.1222G=	XP_011514416.1:p.Glu408=
XM_005250297.4:c.1741G=	XP_005250354.1:p.Glu581=
XM_011516114.2:c.1222G=	XP_011514416.1:p.Glu408=
XM_017012091.1:c.1240G=	XP_016867580.1:p.Glu414=
XM_017012092.1:c.1171G=	XP_016867581.1:p.Glu391=
XM_017012093.2:c.1069G=	XP_016867582.1:p.Glu357=
XR_001744658.2:n.1701G=
XR_001744659.2:n.1814G=
XR_001744660.2:n.1746G=
XR_001744661.2:n.1661G=
XR_927461.3:n.1899G=
NM_000181.4:c.1894G= MANE Select	NP_000172.2:p.Glu632=
NM_001284290.2:c.1456G=	NP_001271219.1:p.Glu486=
NM_001293104.2:c.1324G=	NP_001280033.1:p.Glu442=
NM_001293105.2:c.1237G=	NP_001280034.1:p.Glu413=
NR_120531.2:n.1839G=