Canonical Allele Identifier: CA1713890305

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65981976C= , CM000669.2:g.65981976C=	GRCh38
NC_000007.13:g.65446963C= , CM000669.1:g.65446963C=	GRCh37
NC_000007.12:g.65084398C=	NCBI36
NG_016197.1:g.5339G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.208G= MANE Select	ENSP00000302728.4:p.Glu70=
ENST00000304895.8:c.208G=	ENSP00000302728.4:p.Glu70=
ENST00000421103.5:c.208G=	ENSP00000391390.1:p.Glu70=
ENST00000430730.5:c.208G=	ENSP00000411859.1:p.Glu70=
ENST00000446111.1:c.208G=	ENSP00000416793.1:p.Glu70=
ENST00000447929.5:c.208G=	ENSP00000411262.1:p.Glu70=
ENST00000475316.5:n.113G=
NM_000181.3:c.208G=	NP_000172.2:p.Glu70=
NM_001284290.1:c.208G=	NP_001271219.1:p.Glu70=
NM_001293104.1:c.-178G=	NP_001280033.1:n.-178G=
NM_001293105.1:c.-122G=	NP_001280034.1:n.-122G=
NR_120531.1:n.339G=
XM_005250297.3:c.208G=	XP_005250354.1:p.Glu70=
XM_011516113.1:c.-122G=	XP_011514415.1:n.-122G=
XR_927461.1:n.334G=
XM_005250297.4:c.208G=	XP_005250354.1:p.Glu70=
XM_011516114.2:c.-478G=	XP_011514416.1:n.-478G=
XM_017012091.1:c.-122G=	XP_016867580.1:n.-122G=
XM_017012092.1:c.-178G=	XP_016867581.1:n.-178G=
XM_017012093.2:c.-478G=	XP_016867582.1:n.-478G=
XR_001744658.2:n.253G=
XR_001744659.2:n.253G=
XR_001744660.2:n.253G=
XR_001744661.2:n.253G=
XR_927461.3:n.253G=
NM_000181.4:c.208G= MANE Select	NP_000172.2:p.Glu70=
NM_001284290.2:c.208G=	NP_001271219.1:p.Glu70=
NM_001293104.2:c.-178G=	NP_001280033.1:n.-178G=
NM_001293105.2:c.-122G=	NP_001280034.1:n.-122G=
NR_120531.2:n.238G=