Canonical Allele Identifier: CA1713854681

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960986G= , CM000669.2:g.65960986G=	GRCh38
NC_000007.13:g.65425973G= , CM000669.1:g.65425973G=	GRCh37
NC_000007.12:g.65063408G=	NCBI36
NG_016197.1:g.26329C=
NG_051954.1:g.92888G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1867C= MANE Select	ENSP00000302728.4:p.Arg623=
ENST00000304895.8:c.1867C=	ENSP00000302728.4:p.Arg623=
ENST00000421103.5:c.1429C=	ENSP00000391390.1:p.Arg477=
ENST00000430730.5:c.*1134C=	ENSP00000411859.1:n.*1134C=
ENST00000447929.5:c.*1247C=	ENSP00000411262.1:n.*1247C=
ENST00000466883.5:n.2257C=
NM_000181.3:c.1867C=	NP_000172.2:p.Arg623=
NM_001284290.1:c.1429C=	NP_001271219.1:p.Arg477=
NM_001293104.1:c.1297C=	NP_001280033.1:p.Arg433=
NM_001293105.1:c.1210C=	NP_001280034.1:p.Arg404=
NR_120531.1:n.1913C=
XM_005250297.3:c.1714C=	XP_005250354.1:p.Arg572=
XM_011516113.1:c.1366C=	XP_011514415.1:p.Arg456=
XM_011516114.1:c.1195C=	XP_011514416.1:p.Arg399=
XM_005250297.4:c.1714C=	XP_005250354.1:p.Arg572=
XM_011516114.2:c.1195C=	XP_011514416.1:p.Arg399=
XM_017012091.1:c.1213C=	XP_016867580.1:p.Arg405=
XM_017012092.1:c.1144C=	XP_016867581.1:p.Arg382=
XM_017012093.2:c.1042C=	XP_016867582.1:p.Arg348=
XR_001744658.2:n.1674C=
XR_001744659.2:n.1787C=
XR_001744660.2:n.1719C=
XR_001744661.2:n.1634C=
XR_927461.3:n.1872C=
NM_000181.4:c.1867C= MANE Select	NP_000172.2:p.Arg623=
NM_001284290.2:c.1429C=	NP_001271219.1:p.Arg477=
NM_001293104.2:c.1297C=	NP_001280033.1:p.Arg433=
NM_001293105.2:c.1210C=	NP_001280034.1:p.Arg404=
NR_120531.2:n.1812C=