Canonical Allele Identifier: CA1713864668

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967783T= , CM000669.2:g.65967783T=	GRCh38
NC_000007.13:g.65432770T= , CM000669.1:g.65432770T=	GRCh37
NC_000007.12:g.65070205T=	NCBI36
NG_016197.1:g.19532A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1601A= MANE Select	ENSP00000302728.4:p.Lys534=
ENST00000304895.8:c.1601A=	ENSP00000302728.4:p.Lys534=
ENST00000421103.5:c.1163A=	ENSP00000391390.1:p.Lys388=
ENST00000430730.5:c.*868A=	ENSP00000411859.1:n.*868A=
ENST00000447929.5:c.*981A=	ENSP00000411262.1:n.*981A=
ENST00000461622.1:n.126A=
ENST00000462371.1:n.639A=
ENST00000466883.5:n.1991A=
NM_000181.3:c.1601A=	NP_000172.2:p.Lys534=
NM_001284290.1:c.1163A=	NP_001271219.1:p.Lys388=
NM_001293104.1:c.1031A=	NP_001280033.1:p.Lys344=
NM_001293105.1:c.944A=	NP_001280034.1:p.Lys315=
NR_120531.1:n.1647A=
XM_005250297.3:c.1448A=	XP_005250354.1:p.Lys483=
XM_011516113.1:c.1100A=	XP_011514415.1:p.Lys367=
XM_011516114.1:c.929A=	XP_011514416.1:p.Lys310=
XR_927461.1:n.1687A=
XM_005250297.4:c.1448A=	XP_005250354.1:p.Lys483=
XM_011516114.2:c.929A=	XP_011514416.1:p.Lys310=
XM_017012091.1:c.947A=	XP_016867580.1:p.Lys316=
XM_017012092.1:c.878A=	XP_016867581.1:p.Lys293=
XM_017012093.2:c.776A=	XP_016867582.1:p.Lys259=
XR_001744658.2:n.1408A=
XR_001744659.2:n.1521A=
XR_001744660.2:n.1453A=
XR_001744661.2:n.1368A=
XR_927461.3:n.1606A=
NM_000181.4:c.1601A= MANE Select	NP_000172.2:p.Lys534=
NM_001284290.2:c.1163A=	NP_001271219.1:p.Lys388=
NM_001293104.2:c.1031A=	NP_001280033.1:p.Lys344=
NM_001293105.2:c.944A=	NP_001280034.1:p.Lys315=
NR_120531.2:n.1546A=