Canonical Allele Identifier: CA1713890448

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982048T= , CM000669.2:g.65982048T=	GRCh38
NC_000007.13:g.65447035T= , CM000669.1:g.65447035T=	GRCh37
NC_000007.12:g.65084470T=	NCBI36
NG_016197.1:g.5267A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.136A= MANE Select	ENSP00000302728.4:p.Ser46=
ENST00000304895.8:c.136A=	ENSP00000302728.4:p.Ser46=
ENST00000421103.5:c.136A=	ENSP00000391390.1:p.Ser46=
ENST00000430730.5:c.136A=	ENSP00000411859.1:p.Ser46=
ENST00000446111.1:c.136A=	ENSP00000416793.1:p.Ser46=
ENST00000447929.5:c.136A=	ENSP00000411262.1:p.Ser46=
ENST00000475316.5:n.41A=
NM_000181.3:c.136A=	NP_000172.2:p.Ser46=
NM_001284290.1:c.136A=	NP_001271219.1:p.Ser46=
NM_001293104.1:c.-250A=	NP_001280033.1:n.-250A=
NM_001293105.1:c.-194A=	NP_001280034.1:n.-194A=
NR_120531.1:n.267A=
XM_005250297.3:c.136A=	XP_005250354.1:p.Ser46=
XM_011516113.1:c.-194A=	XP_011514415.1:n.-194A=
XR_927461.1:n.262A=
XM_005250297.4:c.136A=	XP_005250354.1:p.Ser46=
XM_011516114.2:c.-550A=	XP_011514416.1:n.-550A=
XM_017012091.1:c.-194A=	XP_016867580.1:n.-194A=
XM_017012092.1:c.-250A=	XP_016867581.1:n.-250A=
XM_017012093.2:c.-550A=	XP_016867582.1:n.-550A=
XR_001744658.2:n.181A=
XR_001744659.2:n.181A=
XR_001744660.2:n.181A=
XR_001744661.2:n.181A=
XR_927461.3:n.181A=
NM_000181.4:c.136A= MANE Select	NP_000172.2:p.Ser46=
NM_001284290.2:c.136A=	NP_001271219.1:p.Ser46=
NM_001293104.2:c.-250A=	NP_001280033.1:n.-250A=
NM_001293105.2:c.-194A=	NP_001280034.1:n.-194A=
NR_120531.2:n.166A=