Canonical Allele Identifier: CA1713854485

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960934G= , CM000669.2:g.65960934G=	GRCh38
NC_000007.13:g.65425921G= , CM000669.1:g.65425921G=	GRCh37
NC_000007.12:g.65063356G=	NCBI36
NG_016197.1:g.26381C=
NG_051954.1:g.92836G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1919C= MANE Select	ENSP00000302728.4:p.Ala640=
ENST00000304895.8:c.1919C=	ENSP00000302728.4:p.Ala640=
ENST00000421103.5:c.1481C=	ENSP00000391390.1:p.Ala494=
ENST00000430730.5:c.*1186C=	ENSP00000411859.1:n.*1186C=
ENST00000447929.5:c.*1299C=	ENSP00000411262.1:n.*1299C=
ENST00000466883.5:n.2309C=
NM_000181.3:c.1919C=	NP_000172.2:p.Ala640=
NM_001284290.1:c.1481C=	NP_001271219.1:p.Ala494=
NM_001293104.1:c.1349C=	NP_001280033.1:p.Ala450=
NM_001293105.1:c.1262C=	NP_001280034.1:p.Ala421=
NR_120531.1:n.1965C=
XM_005250297.3:c.1766C=	XP_005250354.1:p.Ala589=
XM_011516113.1:c.1418C=	XP_011514415.1:p.Ala473=
XM_011516114.1:c.1247C=	XP_011514416.1:p.Ala416=
XM_005250297.4:c.1766C=	XP_005250354.1:p.Ala589=
XM_011516114.2:c.1247C=	XP_011514416.1:p.Ala416=
XM_017012091.1:c.1265C=	XP_016867580.1:p.Ala422=
XM_017012092.1:c.1196C=	XP_016867581.1:p.Ala399=
XM_017012093.2:c.1094C=	XP_016867582.1:p.Ala365=
XR_001744658.2:n.1726C=
XR_001744659.2:n.1839C=
XR_001744660.2:n.1771C=
XR_001744661.2:n.1686C=
XR_927461.3:n.1924C=
NM_000181.4:c.1919C= MANE Select	NP_000172.2:p.Ala640=
NM_001284290.2:c.1481C=	NP_001271219.1:p.Ala494=
NM_001293104.2:c.1349C=	NP_001280033.1:p.Ala450=
NM_001293105.2:c.1262C=	NP_001280034.1:p.Ala421=
NR_120531.2:n.1864C=