Canonical Allele Identifier: CA1713854676

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960985C= , CM000669.2:g.65960985C=	GRCh38
NC_000007.13:g.65425972C= , CM000669.1:g.65425972C=	GRCh37
NC_000007.12:g.65063407C=	NCBI36
NG_016197.1:g.26330G=
NG_051954.1:g.92887C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1868G= MANE Select	ENSP00000302728.4:p.Arg623=
ENST00000304895.8:c.1868G=	ENSP00000302728.4:p.Arg623=
ENST00000421103.5:c.1430G=	ENSP00000391390.1:p.Arg477=
ENST00000430730.5:c.*1135G=	ENSP00000411859.1:n.*1135G=
ENST00000447929.5:c.*1248G=	ENSP00000411262.1:n.*1248G=
ENST00000466883.5:n.2258G=
NM_000181.3:c.1868G=	NP_000172.2:p.Arg623=
NM_001284290.1:c.1430G=	NP_001271219.1:p.Arg477=
NM_001293104.1:c.1298G=	NP_001280033.1:p.Arg433=
NM_001293105.1:c.1211G=	NP_001280034.1:p.Arg404=
NR_120531.1:n.1914G=
XM_005250297.3:c.1715G=	XP_005250354.1:p.Arg572=
XM_011516113.1:c.1367G=	XP_011514415.1:p.Arg456=
XM_011516114.1:c.1196G=	XP_011514416.1:p.Arg399=
XM_005250297.4:c.1715G=	XP_005250354.1:p.Arg572=
XM_011516114.2:c.1196G=	XP_011514416.1:p.Arg399=
XM_017012091.1:c.1214G=	XP_016867580.1:p.Arg405=
XM_017012092.1:c.1145G=	XP_016867581.1:p.Arg382=
XM_017012093.2:c.1043G=	XP_016867582.1:p.Arg348=
XR_001744658.2:n.1675G=
XR_001744659.2:n.1788G=
XR_001744660.2:n.1720G=
XR_001744661.2:n.1635G=
XR_927461.3:n.1873G=
NM_000181.4:c.1868G= MANE Select	NP_000172.2:p.Arg623=
NM_001284290.2:c.1430G=	NP_001271219.1:p.Arg477=
NM_001293104.2:c.1298G=	NP_001280033.1:p.Arg433=
NM_001293105.2:c.1211G=	NP_001280034.1:p.Arg404=
NR_120531.2:n.1813G=