Canonical Allele Identifier: CA1713854543

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960947G= , CM000669.2:g.65960947G=	GRCh38
NC_000007.13:g.65425934G= , CM000669.1:g.65425934G=	GRCh37
NC_000007.12:g.65063369G=	NCBI36
NG_016197.1:g.26368C=
NG_051954.1:g.92849G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1906C= MANE Select	ENSP00000302728.4:p.Pro636=
ENST00000304895.8:c.1906C=	ENSP00000302728.4:p.Pro636=
ENST00000421103.5:c.1468C=	ENSP00000391390.1:p.Pro490=
ENST00000430730.5:c.*1173C=	ENSP00000411859.1:n.*1173C=
ENST00000447929.5:c.*1286C=	ENSP00000411262.1:n.*1286C=
ENST00000466883.5:n.2296C=
NM_000181.3:c.1906C=	NP_000172.2:p.Pro636=
NM_001284290.1:c.1468C=	NP_001271219.1:p.Pro490=
NM_001293104.1:c.1336C=	NP_001280033.1:p.Pro446=
NM_001293105.1:c.1249C=	NP_001280034.1:p.Pro417=
NR_120531.1:n.1952C=
XM_005250297.3:c.1753C=	XP_005250354.1:p.Pro585=
XM_011516113.1:c.1405C=	XP_011514415.1:p.Pro469=
XM_011516114.1:c.1234C=	XP_011514416.1:p.Pro412=
XM_005250297.4:c.1753C=	XP_005250354.1:p.Pro585=
XM_011516114.2:c.1234C=	XP_011514416.1:p.Pro412=
XM_017012091.1:c.1252C=	XP_016867580.1:p.Pro418=
XM_017012092.1:c.1183C=	XP_016867581.1:p.Pro395=
XM_017012093.2:c.1081C=	XP_016867582.1:p.Pro361=
XR_001744658.2:n.1713C=
XR_001744659.2:n.1826C=
XR_001744660.2:n.1758C=
XR_001744661.2:n.1673C=
XR_927461.3:n.1911C=
NM_000181.4:c.1906C= MANE Select	NP_000172.2:p.Pro636=
NM_001284290.2:c.1468C=	NP_001271219.1:p.Pro490=
NM_001293104.2:c.1336C=	NP_001280033.1:p.Pro446=
NM_001293105.2:c.1249C=	NP_001280034.1:p.Pro417=
NR_120531.2:n.1851C=