Canonical Allele Identifier: CA1713854852

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961054C= , CM000669.2:g.65961054C=	GRCh38
NC_000007.13:g.65426041C= , CM000669.1:g.65426041C=	GRCh37
NC_000007.12:g.65063476C=	NCBI36
NG_016197.1:g.26261G=
NG_051954.1:g.92956C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1799G= MANE Select	ENSP00000302728.4:p.Arg600=
ENST00000304895.8:c.1799G=	ENSP00000302728.4:p.Arg600=
ENST00000421103.5:c.1361G=	ENSP00000391390.1:p.Arg454=
ENST00000430730.5:c.*1066G=	ENSP00000411859.1:n.*1066G=
ENST00000447929.5:c.*1179G=	ENSP00000411262.1:n.*1179G=
ENST00000466883.5:n.2189G=
NM_000181.3:c.1799G=	NP_000172.2:p.Arg600=
NM_001284290.1:c.1361G=	NP_001271219.1:p.Arg454=
NM_001293104.1:c.1229G=	NP_001280033.1:p.Arg410=
NM_001293105.1:c.1142G=	NP_001280034.1:p.Arg381=
NR_120531.1:n.1845G=
XM_005250297.3:c.1646G=	XP_005250354.1:p.Arg549=
XM_011516113.1:c.1298G=	XP_011514415.1:p.Arg433=
XM_011516114.1:c.1127G=	XP_011514416.1:p.Arg376=
XM_005250297.4:c.1646G=	XP_005250354.1:p.Arg549=
XM_011516114.2:c.1127G=	XP_011514416.1:p.Arg376=
XM_017012091.1:c.1145G=	XP_016867580.1:p.Arg382=
XM_017012092.1:c.1076G=	XP_016867581.1:p.Arg359=
XM_017012093.2:c.974G=	XP_016867582.1:p.Arg325=
XR_001744658.2:n.1606G=
XR_001744659.2:n.1719G=
XR_001744660.2:n.1651G=
XR_001744661.2:n.1566G=
XR_927461.3:n.1804G=
NM_000181.4:c.1799G= MANE Select	NP_000172.2:p.Arg600=
NM_001284290.2:c.1361G=	NP_001271219.1:p.Arg454=
NM_001293104.2:c.1229G=	NP_001280033.1:p.Arg410=
NM_001293105.2:c.1142G=	NP_001280034.1:p.Arg381=
NR_120531.2:n.1744G=