Canonical Allele Identifier: CA1713854454

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960922C= , CM000669.2:g.65960922C=	GRCh38
NC_000007.13:g.65425909C= , CM000669.1:g.65425909C=	GRCh37
NC_000007.12:g.65063344C=	NCBI36
NG_016197.1:g.26393G=
NG_051954.1:g.92824C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1931G= MANE Select	ENSP00000302728.4:p.Cys644=
ENST00000304895.8:c.1931G=	ENSP00000302728.4:p.Cys644=
ENST00000421103.5:c.1493G=	ENSP00000391390.1:p.Cys498=
ENST00000430730.5:c.*1198G=	ENSP00000411859.1:n.*1198G=
ENST00000447929.5:c.*1311G=	ENSP00000411262.1:n.*1311G=
ENST00000466883.5:n.2321G=
NM_000181.3:c.1931G=	NP_000172.2:p.Cys644=
NM_001284290.1:c.1493G=	NP_001271219.1:p.Cys498=
NM_001293104.1:c.1361G=	NP_001280033.1:p.Cys454=
NM_001293105.1:c.1274G=	NP_001280034.1:p.Cys425=
NR_120531.1:n.1977G=
XM_005250297.3:c.1778G=	XP_005250354.1:p.Cys593=
XM_011516113.1:c.1430G=	XP_011514415.1:p.Cys477=
XM_011516114.1:c.1259G=	XP_011514416.1:p.Cys420=
XM_005250297.4:c.1778G=	XP_005250354.1:p.Cys593=
XM_011516114.2:c.1259G=	XP_011514416.1:p.Cys420=
XM_017012091.1:c.1277G=	XP_016867580.1:p.Cys426=
XM_017012092.1:c.1208G=	XP_016867581.1:p.Cys403=
XM_017012093.2:c.1106G=	XP_016867582.1:p.Cys369=
XR_001744658.2:n.1738G=
XR_001744659.2:n.1851G=
XR_001744660.2:n.1783G=
XR_001744661.2:n.1698G=
XR_927461.3:n.1936G=
NM_000181.4:c.1931G= MANE Select	NP_000172.2:p.Cys644=
NM_001284290.2:c.1493G=	NP_001271219.1:p.Cys498=
NM_001293104.2:c.1361G=	NP_001280033.1:p.Cys454=
NM_001293105.2:c.1274G=	NP_001280034.1:p.Cys425=
NR_120531.2:n.1876G=