Canonical Allele Identifier: CA1713885199

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65976061C= , CM000669.2:g.65976061C=	GRCh38
NC_000007.13:g.65441048C= , CM000669.1:g.65441048C=	GRCh37
NC_000007.12:g.65078483C=	NCBI36
NG_016197.1:g.11254G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.866G= MANE Select	NP_000172.2:p.Trp289=
ENST00000304895.9:c.866G= MANE Select	ENSP00000302728.4:p.Trp289=
NM_000181.3:c.866G=	NP_000172.2:p.Trp289=
NM_001284290.1:c.475-990G=	NP_001271219.1:n.475-990G=
NM_001284290.2:c.475-990G=	NP_001271219.1:n.475-990G=
NM_001293104.1:c.296G=	NP_001280033.1:p.Trp99=
NM_001293104.2:c.296G=	NP_001280033.1:p.Trp99=
NM_001293105.1:c.209G=	NP_001280034.1:p.Trp70=
NM_001293105.2:c.209G=	NP_001280034.1:p.Trp70=
NR_120531.1:n.997G=
NR_120531.2:n.896G=
ENST00000304895.8:c.866G=	ENSP00000302728.4:p.Trp289=
ENST00000421103.5:c.475-990G=	ENSP00000391390.1:n.475-990G=
ENST00000430730.5:c.*133G=	ENSP00000411859.1:n.*133G=
ENST00000446111.1:c.*259G=	ENSP00000416793.1:n.*259G=
ENST00000447929.5:c.*246G=	ENSP00000411262.1:n.*246G=
ENST00000465785.5:n.252G=
ENST00000466883.5:n.100G=
ENST00000475316.5:n.257G=
ENST00000476486.5:n.670G=
ENST00000479038.1:n.189-1357G=
XM_005250297.3:c.866G=	XP_005250354.1:p.Trp289=
XM_005250297.4:c.866G=	XP_005250354.1:p.Trp289=
XM_011516113.1:c.365G=	XP_011514415.1:p.Trp122=
XM_011516114.1:c.194G=	XP_011514416.1:p.Trp65=
XM_011516114.2:c.194G=	XP_011514416.1:p.Trp65=
XM_017012091.1:c.365G=	XP_016867580.1:p.Trp122=
XM_017012092.1:c.296G=	XP_016867581.1:p.Trp99=
XM_017012093.2:c.194G=	XP_016867582.1:p.Trp65=
XR_001744658.2:n.911G=
XR_001744659.2:n.911G=
XR_001744660.2:n.911G=
XR_001744661.2:n.911G=
XR_927461.1:n.992G=
XR_927461.3:n.911G=