Canonical Allele Identifier: CA1713864348

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967714A= , CM000669.2:g.65967714A=	GRCh38
NC_000007.13:g.65432701A= , CM000669.1:g.65432701A=	GRCh37
NC_000007.12:g.65070136A=	NCBI36
NG_016197.1:g.19601T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1653+17T= MANE Select	ENSP00000302728.4:n.1653+17T=
ENST00000304895.8:c.1653+17T=	ENSP00000302728.4:n.1653+17T=
ENST00000421103.5:c.1215+17T=	ENSP00000391390.1:n.1215+17T=
ENST00000430730.5:c.*920+17T=	ENSP00000411859.1:n.*920+17T=
ENST00000447929.5:c.*1033+17T=	ENSP00000411262.1:n.*1033+17T=
ENST00000461622.1:n.178+17T=
ENST00000462371.1:n.691+17T=
ENST00000466883.5:n.2043+17T=
NM_000181.3:c.1653+17T=	NP_000172.2:n.1653+17T=
NM_001284290.1:c.1215+17T=	NP_001271219.1:n.1215+17T=
NM_001293104.1:c.1083+17T=	NP_001280033.1:n.1083+17T=
NM_001293105.1:c.996+17T=	NP_001280034.1:n.996+17T=
NR_120531.1:n.1699+17T=
XM_005250297.3:c.1500+17T=	XP_005250354.1:n.1500+17T=
XM_011516113.1:c.1152+17T=	XP_011514415.1:n.1152+17T=
XM_011516114.1:c.981+17T=	XP_011514416.1:n.981+17T=
XR_927461.1:n.1739+17T=
XM_005250297.4:c.1500+17T=	XP_005250354.1:n.1500+17T=
XM_011516114.2:c.981+17T=	XP_011514416.1:n.981+17T=
XM_017012091.1:c.999+17T=	XP_016867580.1:n.999+17T=
XM_017012092.1:c.930+17T=	XP_016867581.1:n.930+17T=
XM_017012093.2:c.828+17T=	XP_016867582.1:n.828+17T=
XR_001744658.2:n.1460+17T=
XR_001744659.2:n.1573+17T=
XR_001744660.2:n.1505+17T=
XR_001744661.2:n.1420+17T=
XR_927461.3:n.1658+17T=
NM_000181.4:c.1653+17T= MANE Select	NP_000172.2:n.1653+17T=
NM_001284290.2:c.1215+17T=	NP_001271219.1:n.1215+17T=
NM_001293104.2:c.1083+17T=	NP_001280033.1:n.1083+17T=
NM_001293105.2:c.996+17T=	NP_001280034.1:n.996+17T=
NR_120531.2:n.1598+17T=