Canonical Allele Identifier: CA1713854568

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960952C= , CM000669.2:g.65960952C=	GRCh38
NC_000007.13:g.65425939C= , CM000669.1:g.65425939C=	GRCh37
NC_000007.12:g.65063374C=	NCBI36
NG_016197.1:g.26363G=
NG_051954.1:g.92854C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1901G= MANE Select	ENSP00000302728.4:p.Arg634=
ENST00000304895.8:c.1901G=	ENSP00000302728.4:p.Arg634=
ENST00000421103.5:c.1463G=	ENSP00000391390.1:p.Arg488=
ENST00000430730.5:c.*1168G=	ENSP00000411859.1:n.*1168G=
ENST00000447929.5:c.*1281G=	ENSP00000411262.1:n.*1281G=
ENST00000466883.5:n.2291G=
NM_000181.3:c.1901G=	NP_000172.2:p.Arg634=
NM_001284290.1:c.1463G=	NP_001271219.1:p.Arg488=
NM_001293104.1:c.1331G=	NP_001280033.1:p.Arg444=
NM_001293105.1:c.1244G=	NP_001280034.1:p.Arg415=
NR_120531.1:n.1947G=
XM_005250297.3:c.1748G=	XP_005250354.1:p.Arg583=
XM_011516113.1:c.1400G=	XP_011514415.1:p.Arg467=
XM_011516114.1:c.1229G=	XP_011514416.1:p.Arg410=
XM_005250297.4:c.1748G=	XP_005250354.1:p.Arg583=
XM_011516114.2:c.1229G=	XP_011514416.1:p.Arg410=
XM_017012091.1:c.1247G=	XP_016867580.1:p.Arg416=
XM_017012092.1:c.1178G=	XP_016867581.1:p.Arg393=
XM_017012093.2:c.1076G=	XP_016867582.1:p.Arg359=
XR_001744658.2:n.1708G=
XR_001744659.2:n.1821G=
XR_001744660.2:n.1753G=
XR_001744661.2:n.1668G=
XR_927461.3:n.1906G=
NM_000181.4:c.1901G= MANE Select	NP_000172.2:p.Arg634=
NM_001284290.2:c.1463G=	NP_001271219.1:p.Arg488=
NM_001293104.2:c.1331G=	NP_001280033.1:p.Arg444=
NM_001293105.2:c.1244G=	NP_001280034.1:p.Arg415=
NR_120531.2:n.1846G=