Canonical Allele Identifier: CA1713854904

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961062T= , CM000669.2:g.65961062T=	GRCh38
NC_000007.13:g.65426049T= , CM000669.1:g.65426049T=	GRCh37
NC_000007.12:g.65063484T=	NCBI36
NG_016197.1:g.26253A=
NG_051954.1:g.92964T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1791A= MANE Select	ENSP00000302728.4:p.Ser597=
ENST00000304895.8:c.1791A=	ENSP00000302728.4:p.Ser597=
ENST00000421103.5:c.1353A=	ENSP00000391390.1:p.Ser451=
ENST00000430730.5:c.*1058A=	ENSP00000411859.1:n.*1058A=
ENST00000447929.5:c.*1171A=	ENSP00000411262.1:n.*1171A=
ENST00000466883.5:n.2181A=
NM_000181.3:c.1791A=	NP_000172.2:p.Ser597=
NM_001284290.1:c.1353A=	NP_001271219.1:p.Ser451=
NM_001293104.1:c.1221A=	NP_001280033.1:p.Ser407=
NM_001293105.1:c.1134A=	NP_001280034.1:p.Ser378=
NR_120531.1:n.1837A=
XM_005250297.3:c.1638A=	XP_005250354.1:p.Ser546=
XM_011516113.1:c.1290A=	XP_011514415.1:p.Ser430=
XM_011516114.1:c.1119A=	XP_011514416.1:p.Ser373=
XM_005250297.4:c.1638A=	XP_005250354.1:p.Ser546=
XM_011516114.2:c.1119A=	XP_011514416.1:p.Ser373=
XM_017012091.1:c.1137A=	XP_016867580.1:p.Ser379=
XM_017012092.1:c.1068A=	XP_016867581.1:p.Ser356=
XM_017012093.2:c.966A=	XP_016867582.1:p.Ser322=
XR_001744658.2:n.1598A=
XR_001744659.2:n.1711A=
XR_001744660.2:n.1643A=
XR_001744661.2:n.1558A=
XR_927461.3:n.1796A=
NM_000181.4:c.1791A= MANE Select	NP_000172.2:p.Ser597=
NM_001284290.2:c.1353A=	NP_001271219.1:p.Ser451=
NM_001293104.2:c.1221A=	NP_001280033.1:p.Ser407=
NM_001293105.2:c.1134A=	NP_001280034.1:p.Ser378=
NR_120531.2:n.1736A=