Canonical Allele Identifier: CA1713854815

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961040T= , CM000669.2:g.65961040T=	GRCh38
NC_000007.13:g.65426027T= , CM000669.1:g.65426027T=	GRCh37
NC_000007.12:g.65063462T=	NCBI36
NG_016197.1:g.26275A=
NG_051954.1:g.92942T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1813A= MANE Select	ENSP00000302728.4:p.Lys605=
ENST00000304895.8:c.1813A=	ENSP00000302728.4:p.Lys605=
ENST00000421103.5:c.1375A=	ENSP00000391390.1:p.Lys459=
ENST00000430730.5:c.*1080A=	ENSP00000411859.1:n.*1080A=
ENST00000447929.5:c.*1193A=	ENSP00000411262.1:n.*1193A=
ENST00000466883.5:n.2203A=
NM_000181.3:c.1813A=	NP_000172.2:p.Lys605=
NM_001284290.1:c.1375A=	NP_001271219.1:p.Lys459=
NM_001293104.1:c.1243A=	NP_001280033.1:p.Lys415=
NM_001293105.1:c.1156A=	NP_001280034.1:p.Lys386=
NR_120531.1:n.1859A=
XM_005250297.3:c.1660A=	XP_005250354.1:p.Lys554=
XM_011516113.1:c.1312A=	XP_011514415.1:p.Lys438=
XM_011516114.1:c.1141A=	XP_011514416.1:p.Lys381=
XM_005250297.4:c.1660A=	XP_005250354.1:p.Lys554=
XM_011516114.2:c.1141A=	XP_011514416.1:p.Lys381=
XM_017012091.1:c.1159A=	XP_016867580.1:p.Lys387=
XM_017012092.1:c.1090A=	XP_016867581.1:p.Lys364=
XM_017012093.2:c.988A=	XP_016867582.1:p.Lys330=
XR_001744658.2:n.1620A=
XR_001744659.2:n.1733A=
XR_001744660.2:n.1665A=
XR_001744661.2:n.1580A=
XR_927461.3:n.1818A=
NM_000181.4:c.1813A= MANE Select	NP_000172.2:p.Lys605=
NM_001284290.2:c.1375A=	NP_001271219.1:p.Lys459=
NM_001293104.2:c.1243A=	NP_001280033.1:p.Lys415=
NM_001293105.2:c.1156A=	NP_001280034.1:p.Lys386=
NR_120531.2:n.1758A=