Canonical Allele Identifier: CA1713864765

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967824C= , CM000669.2:g.65967824C=	GRCh38
NC_000007.13:g.65432811C= , CM000669.1:g.65432811C=	GRCh37
NC_000007.12:g.65070246C=	NCBI36
NG_016197.1:g.19491G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1560G= MANE Select	ENSP00000302728.4:p.Gln520=
ENST00000304895.8:c.1560G=	ENSP00000302728.4:p.Gln520=
ENST00000421103.5:c.1122G=	ENSP00000391390.1:p.Gln374=
ENST00000430730.5:c.*827G=	ENSP00000411859.1:n.*827G=
ENST00000447929.5:c.*940G=	ENSP00000411262.1:n.*940G=
ENST00000461622.1:n.85G=
ENST00000462371.1:n.598G=
ENST00000466883.5:n.1950G=
NM_000181.3:c.1560G=	NP_000172.2:p.Gln520=
NM_001284290.1:c.1122G=	NP_001271219.1:p.Gln374=
NM_001293104.1:c.990G=	NP_001280033.1:p.Gln330=
NM_001293105.1:c.903G=	NP_001280034.1:p.Gln301=
NR_120531.1:n.1606G=
XM_005250297.3:c.1407G=	XP_005250354.1:p.Gln469=
XM_011516113.1:c.1059G=	XP_011514415.1:p.Gln353=
XM_011516114.1:c.888G=	XP_011514416.1:p.Gln296=
XR_927461.1:n.1646G=
XM_005250297.4:c.1407G=	XP_005250354.1:p.Gln469=
XM_011516114.2:c.888G=	XP_011514416.1:p.Gln296=
XM_017012091.1:c.906G=	XP_016867580.1:p.Gln302=
XM_017012092.1:c.837G=	XP_016867581.1:p.Gln279=
XM_017012093.2:c.735G=	XP_016867582.1:p.Gln245=
XR_001744658.2:n.1367G=
XR_001744659.2:n.1480G=
XR_001744660.2:n.1412G=
XR_001744661.2:n.1327G=
XR_927461.3:n.1565G=
NM_000181.4:c.1560G= MANE Select	NP_000172.2:p.Gln520=
NM_001284290.2:c.1122G=	NP_001271219.1:p.Gln374=
NM_001293104.2:c.990G=	NP_001280033.1:p.Gln330=
NM_001293105.2:c.903G=	NP_001280034.1:p.Gln301=
NR_120531.2:n.1505G=