Canonical Allele Identifier: CA1713854812

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961037T= , CM000669.2:g.65961037T=	GRCh38
NC_000007.13:g.65426024T= , CM000669.1:g.65426024T=	GRCh37
NC_000007.12:g.65063459T=	NCBI36
NG_016197.1:g.26278A=
NG_051954.1:g.92939T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1816A= MANE Select	ENSP00000302728.4:p.Lys606=
ENST00000304895.8:c.1816A=	ENSP00000302728.4:p.Lys606=
ENST00000421103.5:c.1378A=	ENSP00000391390.1:p.Lys460=
ENST00000430730.5:c.*1083A=	ENSP00000411859.1:n.*1083A=
ENST00000447929.5:c.*1196A=	ENSP00000411262.1:n.*1196A=
ENST00000466883.5:n.2206A=
NM_000181.3:c.1816A=	NP_000172.2:p.Lys606=
NM_001284290.1:c.1378A=	NP_001271219.1:p.Lys460=
NM_001293104.1:c.1246A=	NP_001280033.1:p.Lys416=
NM_001293105.1:c.1159A=	NP_001280034.1:p.Lys387=
NR_120531.1:n.1862A=
XM_005250297.3:c.1663A=	XP_005250354.1:p.Lys555=
XM_011516113.1:c.1315A=	XP_011514415.1:p.Lys439=
XM_011516114.1:c.1144A=	XP_011514416.1:p.Lys382=
XM_005250297.4:c.1663A=	XP_005250354.1:p.Lys555=
XM_011516114.2:c.1144A=	XP_011514416.1:p.Lys382=
XM_017012091.1:c.1162A=	XP_016867580.1:p.Lys388=
XM_017012092.1:c.1093A=	XP_016867581.1:p.Lys365=
XM_017012093.2:c.991A=	XP_016867582.1:p.Lys331=
XR_001744658.2:n.1623A=
XR_001744659.2:n.1736A=
XR_001744660.2:n.1668A=
XR_001744661.2:n.1583A=
XR_927461.3:n.1821A=
NM_000181.4:c.1816A= MANE Select	NP_000172.2:p.Lys606=
NM_001284290.2:c.1378A=	NP_001271219.1:p.Lys460=
NM_001293104.2:c.1246A=	NP_001280033.1:p.Lys416=
NM_001293105.2:c.1159A=	NP_001280034.1:p.Lys387=
NR_120531.2:n.1761A=