Canonical Allele Identifier: CA1713854600

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960961T= , CM000669.2:g.65960961T=	GRCh38
NC_000007.13:g.65425948T= , CM000669.1:g.65425948T=	GRCh37
NC_000007.12:g.65063383T=	NCBI36
NG_016197.1:g.26354A=
NG_051954.1:g.92863T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1892A= MANE Select	ENSP00000302728.4:p.Asn631=
ENST00000304895.8:c.1892A=	ENSP00000302728.4:p.Asn631=
ENST00000421103.5:c.1454A=	ENSP00000391390.1:p.Asn485=
ENST00000430730.5:c.*1159A=	ENSP00000411859.1:n.*1159A=
ENST00000447929.5:c.*1272A=	ENSP00000411262.1:n.*1272A=
ENST00000466883.5:n.2282A=
NM_000181.3:c.1892A=	NP_000172.2:p.Asn631=
NM_001284290.1:c.1454A=	NP_001271219.1:p.Asn485=
NM_001293104.1:c.1322A=	NP_001280033.1:p.Asn441=
NM_001293105.1:c.1235A=	NP_001280034.1:p.Asn412=
NR_120531.1:n.1938A=
XM_005250297.3:c.1739A=	XP_005250354.1:p.Asn580=
XM_011516113.1:c.1391A=	XP_011514415.1:p.Asn464=
XM_011516114.1:c.1220A=	XP_011514416.1:p.Asn407=
XM_005250297.4:c.1739A=	XP_005250354.1:p.Asn580=
XM_011516114.2:c.1220A=	XP_011514416.1:p.Asn407=
XM_017012091.1:c.1238A=	XP_016867580.1:p.Asn413=
XM_017012092.1:c.1169A=	XP_016867581.1:p.Asn390=
XM_017012093.2:c.1067A=	XP_016867582.1:p.Asn356=
XR_001744658.2:n.1699A=
XR_001744659.2:n.1812A=
XR_001744660.2:n.1744A=
XR_001744661.2:n.1659A=
XR_927461.3:n.1897A=
NM_000181.4:c.1892A= MANE Select	NP_000172.2:p.Asn631=
NM_001284290.2:c.1454A=	NP_001271219.1:p.Asn485=
NM_001293104.2:c.1322A=	NP_001280033.1:p.Asn441=
NM_001293105.2:c.1235A=	NP_001280034.1:p.Asn412=
NR_120531.2:n.1837A=