Canonical Allele Identifier: CA1713854447

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960916T= , CM000669.2:g.65960916T=	GRCh38
NC_000007.13:g.65425903T= , CM000669.1:g.65425903T=	GRCh37
NC_000007.12:g.65063338T=	NCBI36
NG_016197.1:g.26399A=
NG_051954.1:g.92818T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1937A= MANE Select	ENSP00000302728.4:p.Glu646=
ENST00000304895.8:c.1937A=	ENSP00000302728.4:p.Glu646=
ENST00000421103.5:c.1499A=	ENSP00000391390.1:p.Glu500=
ENST00000430730.5:c.*1204A=	ENSP00000411859.1:n.*1204A=
ENST00000447929.5:c.*1317A=	ENSP00000411262.1:n.*1317A=
ENST00000466883.5:n.2327A=
NM_000181.3:c.1937A=	NP_000172.2:p.Glu646=
NM_001284290.1:c.1499A=	NP_001271219.1:p.Glu500=
NM_001293104.1:c.1367A=	NP_001280033.1:p.Glu456=
NM_001293105.1:c.1280A=	NP_001280034.1:p.Glu427=
NR_120531.1:n.1983A=
XM_005250297.3:c.1784A=	XP_005250354.1:p.Glu595=
XM_011516113.1:c.1436A=	XP_011514415.1:p.Glu479=
XM_011516114.1:c.1265A=	XP_011514416.1:p.Glu422=
XM_005250297.4:c.1784A=	XP_005250354.1:p.Glu595=
XM_011516114.2:c.1265A=	XP_011514416.1:p.Glu422=
XM_017012091.1:c.1283A=	XP_016867580.1:p.Glu428=
XM_017012092.1:c.1214A=	XP_016867581.1:p.Glu405=
XM_017012093.2:c.1112A=	XP_016867582.1:p.Glu371=
XR_001744658.2:n.1744A=
XR_001744659.2:n.1857A=
XR_001744660.2:n.1789A=
XR_001744661.2:n.1704A=
XR_927461.3:n.1942A=
NM_000181.4:c.1937A= MANE Select	NP_000172.2:p.Glu646=
NM_001284290.2:c.1499A=	NP_001271219.1:p.Glu500=
NM_001293104.2:c.1367A=	NP_001280033.1:p.Glu456=
NM_001293105.2:c.1280A=	NP_001280034.1:p.Glu427=
NR_120531.2:n.1882A=