Canonical Allele Identifier: CA1713854605

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960962T= , CM000669.2:g.65960962T=	GRCh38
NC_000007.13:g.65425949T= , CM000669.1:g.65425949T=	GRCh37
NC_000007.12:g.65063384T=	NCBI36
NG_016197.1:g.26353A=
NG_051954.1:g.92864T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1891A= MANE Select	ENSP00000302728.4:p.Asn631=
ENST00000304895.8:c.1891A=	ENSP00000302728.4:p.Asn631=
ENST00000421103.5:c.1453A=	ENSP00000391390.1:p.Asn485=
ENST00000430730.5:c.*1158A=	ENSP00000411859.1:n.*1158A=
ENST00000447929.5:c.*1271A=	ENSP00000411262.1:n.*1271A=
ENST00000466883.5:n.2281A=
NM_000181.3:c.1891A=	NP_000172.2:p.Asn631=
NM_001284290.1:c.1453A=	NP_001271219.1:p.Asn485=
NM_001293104.1:c.1321A=	NP_001280033.1:p.Asn441=
NM_001293105.1:c.1234A=	NP_001280034.1:p.Asn412=
NR_120531.1:n.1937A=
XM_005250297.3:c.1738A=	XP_005250354.1:p.Asn580=
XM_011516113.1:c.1390A=	XP_011514415.1:p.Asn464=
XM_011516114.1:c.1219A=	XP_011514416.1:p.Asn407=
XM_005250297.4:c.1738A=	XP_005250354.1:p.Asn580=
XM_011516114.2:c.1219A=	XP_011514416.1:p.Asn407=
XM_017012091.1:c.1237A=	XP_016867580.1:p.Asn413=
XM_017012092.1:c.1168A=	XP_016867581.1:p.Asn390=
XM_017012093.2:c.1066A=	XP_016867582.1:p.Asn356=
XR_001744658.2:n.1698A=
XR_001744659.2:n.1811A=
XR_001744660.2:n.1743A=
XR_001744661.2:n.1658A=
XR_927461.3:n.1896A=
NM_000181.4:c.1891A= MANE Select	NP_000172.2:p.Asn631=
NM_001284290.2:c.1453A=	NP_001271219.1:p.Asn485=
NM_001293104.2:c.1321A=	NP_001280033.1:p.Asn441=
NM_001293105.2:c.1234A=	NP_001280034.1:p.Asn412=
NR_120531.2:n.1836A=