Canonical Allele Identifier: CA1713864884

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967866A= , CM000669.2:g.65967866A=	GRCh38
NC_000007.13:g.65432853A= , CM000669.1:g.65432853A=	GRCh37
NC_000007.12:g.65070288A=	NCBI36
NG_016197.1:g.19449T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1518T= MANE Select	ENSP00000302728.4:p.Ser506=
ENST00000304895.8:c.1518T=	ENSP00000302728.4:p.Ser506=
ENST00000421103.5:c.1080T=	ENSP00000391390.1:p.Ser360=
ENST00000430730.5:c.*785T=	ENSP00000411859.1:n.*785T=
ENST00000447929.5:c.*898T=	ENSP00000411262.1:n.*898T=
ENST00000461622.1:n.43T=
ENST00000462371.1:n.556T=
ENST00000466883.5:n.1908T=
NM_000181.3:c.1518T=	NP_000172.2:p.Ser506=
NM_001284290.1:c.1080T=	NP_001271219.1:p.Ser360=
NM_001293104.1:c.948T=	NP_001280033.1:p.Ser316=
NM_001293105.1:c.861T=	NP_001280034.1:p.Ser287=
NR_120531.1:n.1564T=
XM_005250297.3:c.1365T=	XP_005250354.1:p.Ser455=
XM_011516113.1:c.1017T=	XP_011514415.1:p.Ser339=
XM_011516114.1:c.846T=	XP_011514416.1:p.Ser282=
XR_927461.1:n.1604T=
XM_005250297.4:c.1365T=	XP_005250354.1:p.Ser455=
XM_011516114.2:c.846T=	XP_011514416.1:p.Ser282=
XM_017012091.1:c.864T=	XP_016867580.1:p.Ser288=
XM_017012092.1:c.795T=	XP_016867581.1:p.Ser265=
XM_017012093.2:c.693T=	XP_016867582.1:p.Ser231=
XR_001744658.2:n.1325T=
XR_001744659.2:n.1438T=
XR_001744660.2:n.1370T=
XR_001744661.2:n.1285T=
XR_927461.3:n.1523T=
NM_000181.4:c.1518T= MANE Select	NP_000172.2:p.Ser506=
NM_001284290.2:c.1080T=	NP_001271219.1:p.Ser360=
NM_001293104.2:c.948T=	NP_001280033.1:p.Ser316=
NM_001293105.2:c.861T=	NP_001280034.1:p.Ser287=
NR_120531.2:n.1463T=