Canonical Allele Identifier: CA1713854513

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960941A= , CM000669.2:g.65960941A=	GRCh38
NC_000007.13:g.65425928A= , CM000669.1:g.65425928A=	GRCh37
NC_000007.12:g.65063363A=	NCBI36
NG_016197.1:g.26374T=
NG_051954.1:g.92843A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1912T= MANE Select	ENSP00000302728.4:p.Ser638=
ENST00000304895.8:c.1912T=	ENSP00000302728.4:p.Ser638=
ENST00000421103.5:c.1474T=	ENSP00000391390.1:p.Ser492=
ENST00000430730.5:c.*1179T=	ENSP00000411859.1:n.*1179T=
ENST00000447929.5:c.*1292T=	ENSP00000411262.1:n.*1292T=
ENST00000466883.5:n.2302T=
NM_000181.3:c.1912T=	NP_000172.2:p.Ser638=
NM_001284290.1:c.1474T=	NP_001271219.1:p.Ser492=
NM_001293104.1:c.1342T=	NP_001280033.1:p.Ser448=
NM_001293105.1:c.1255T=	NP_001280034.1:p.Ser419=
NR_120531.1:n.1958T=
XM_005250297.3:c.1759T=	XP_005250354.1:p.Ser587=
XM_011516113.1:c.1411T=	XP_011514415.1:p.Ser471=
XM_011516114.1:c.1240T=	XP_011514416.1:p.Ser414=
XM_005250297.4:c.1759T=	XP_005250354.1:p.Ser587=
XM_011516114.2:c.1240T=	XP_011514416.1:p.Ser414=
XM_017012091.1:c.1258T=	XP_016867580.1:p.Ser420=
XM_017012092.1:c.1189T=	XP_016867581.1:p.Ser397=
XM_017012093.2:c.1087T=	XP_016867582.1:p.Ser363=
XR_001744658.2:n.1719T=
XR_001744659.2:n.1832T=
XR_001744660.2:n.1764T=
XR_001744661.2:n.1679T=
XR_927461.3:n.1917T=
NM_000181.4:c.1912T= MANE Select	NP_000172.2:p.Ser638=
NM_001284290.2:c.1474T=	NP_001271219.1:p.Ser492=
NM_001293104.2:c.1342T=	NP_001280033.1:p.Ser448=
NM_001293105.2:c.1255T=	NP_001280034.1:p.Ser419=
NR_120531.2:n.1857T=