Canonical Allele Identifier: CA1713854627

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960970T= , CM000669.2:g.65960970T=	GRCh38
NC_000007.13:g.65425957T= , CM000669.1:g.65425957T=	GRCh37
NC_000007.12:g.65063392T=	NCBI36
NG_016197.1:g.26345A=
NG_051954.1:g.92872T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1883A= MANE Select	ENSP00000302728.4:p.Lys628=
ENST00000304895.8:c.1883A=	ENSP00000302728.4:p.Lys628=
ENST00000421103.5:c.1445A=	ENSP00000391390.1:p.Lys482=
ENST00000430730.5:c.*1150A=	ENSP00000411859.1:n.*1150A=
ENST00000447929.5:c.*1263A=	ENSP00000411262.1:n.*1263A=
ENST00000466883.5:n.2273A=
NM_000181.3:c.1883A=	NP_000172.2:p.Lys628=
NM_001284290.1:c.1445A=	NP_001271219.1:p.Lys482=
NM_001293104.1:c.1313A=	NP_001280033.1:p.Lys438=
NM_001293105.1:c.1226A=	NP_001280034.1:p.Lys409=
NR_120531.1:n.1929A=
XM_005250297.3:c.1730A=	XP_005250354.1:p.Lys577=
XM_011516113.1:c.1382A=	XP_011514415.1:p.Lys461=
XM_011516114.1:c.1211A=	XP_011514416.1:p.Lys404=
XM_005250297.4:c.1730A=	XP_005250354.1:p.Lys577=
XM_011516114.2:c.1211A=	XP_011514416.1:p.Lys404=
XM_017012091.1:c.1229A=	XP_016867580.1:p.Lys410=
XM_017012092.1:c.1160A=	XP_016867581.1:p.Lys387=
XM_017012093.2:c.1058A=	XP_016867582.1:p.Lys353=
XR_001744658.2:n.1690A=
XR_001744659.2:n.1803A=
XR_001744660.2:n.1735A=
XR_001744661.2:n.1650A=
XR_927461.3:n.1888A=
NM_000181.4:c.1883A= MANE Select	NP_000172.2:p.Lys628=
NM_001284290.2:c.1445A=	NP_001271219.1:p.Lys482=
NM_001293104.2:c.1313A=	NP_001280033.1:p.Lys438=
NM_001293105.2:c.1226A=	NP_001280034.1:p.Lys409=
NR_120531.2:n.1828A=