Canonical Allele Identifier: CA1713854578

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960956T= , CM000669.2:g.65960956T=	GRCh38
NC_000007.13:g.65425943T= , CM000669.1:g.65425943T=	GRCh37
NC_000007.12:g.65063378T=	NCBI36
NG_016197.1:g.26359A=
NG_051954.1:g.92858T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1897A= MANE Select	ENSP00000302728.4:p.Thr633=
ENST00000304895.8:c.1897A=	ENSP00000302728.4:p.Thr633=
ENST00000421103.5:c.1459A=	ENSP00000391390.1:p.Thr487=
ENST00000430730.5:c.*1164A=	ENSP00000411859.1:n.*1164A=
ENST00000447929.5:c.*1277A=	ENSP00000411262.1:n.*1277A=
ENST00000466883.5:n.2287A=
NM_000181.3:c.1897A=	NP_000172.2:p.Thr633=
NM_001284290.1:c.1459A=	NP_001271219.1:p.Thr487=
NM_001293104.1:c.1327A=	NP_001280033.1:p.Thr443=
NM_001293105.1:c.1240A=	NP_001280034.1:p.Thr414=
NR_120531.1:n.1943A=
XM_005250297.3:c.1744A=	XP_005250354.1:p.Thr582=
XM_011516113.1:c.1396A=	XP_011514415.1:p.Thr466=
XM_011516114.1:c.1225A=	XP_011514416.1:p.Thr409=
XM_005250297.4:c.1744A=	XP_005250354.1:p.Thr582=
XM_011516114.2:c.1225A=	XP_011514416.1:p.Thr409=
XM_017012091.1:c.1243A=	XP_016867580.1:p.Thr415=
XM_017012092.1:c.1174A=	XP_016867581.1:p.Thr392=
XM_017012093.2:c.1072A=	XP_016867582.1:p.Thr358=
XR_001744658.2:n.1704A=
XR_001744659.2:n.1817A=
XR_001744660.2:n.1749A=
XR_001744661.2:n.1664A=
XR_927461.3:n.1902A=
NM_000181.4:c.1897A= MANE Select	NP_000172.2:p.Thr633=
NM_001284290.2:c.1459A=	NP_001271219.1:p.Thr487=
NM_001293104.2:c.1327A=	NP_001280033.1:p.Thr443=
NM_001293105.2:c.1240A=	NP_001280034.1:p.Thr414=
NR_120531.2:n.1842A=