Canonical Allele Identifier: CA1713864766

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967827C= , CM000669.2:g.65967827C=	GRCh38
NC_000007.13:g.65432814C= , CM000669.1:g.65432814C=	GRCh37
NC_000007.12:g.65070249C=	NCBI36
NG_016197.1:g.19488G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1557G= MANE Select	ENSP00000302728.4:p.Leu519=
ENST00000304895.8:c.1557G=	ENSP00000302728.4:p.Leu519=
ENST00000421103.5:c.1119G=	ENSP00000391390.1:p.Leu373=
ENST00000430730.5:c.*824G=	ENSP00000411859.1:n.*824G=
ENST00000447929.5:c.*937G=	ENSP00000411262.1:n.*937G=
ENST00000461622.1:n.82G=
ENST00000462371.1:n.595G=
ENST00000466883.5:n.1947G=
NM_000181.3:c.1557G=	NP_000172.2:p.Leu519=
NM_001284290.1:c.1119G=	NP_001271219.1:p.Leu373=
NM_001293104.1:c.987G=	NP_001280033.1:p.Leu329=
NM_001293105.1:c.900G=	NP_001280034.1:p.Leu300=
NR_120531.1:n.1603G=
XM_005250297.3:c.1404G=	XP_005250354.1:p.Leu468=
XM_011516113.1:c.1056G=	XP_011514415.1:p.Leu352=
XM_011516114.1:c.885G=	XP_011514416.1:p.Leu295=
XR_927461.1:n.1643G=
XM_005250297.4:c.1404G=	XP_005250354.1:p.Leu468=
XM_011516114.2:c.885G=	XP_011514416.1:p.Leu295=
XM_017012091.1:c.903G=	XP_016867580.1:p.Leu301=
XM_017012092.1:c.834G=	XP_016867581.1:p.Leu278=
XM_017012093.2:c.732G=	XP_016867582.1:p.Leu244=
XR_001744658.2:n.1364G=
XR_001744659.2:n.1477G=
XR_001744660.2:n.1409G=
XR_001744661.2:n.1324G=
XR_927461.3:n.1562G=
NM_000181.4:c.1557G= MANE Select	NP_000172.2:p.Leu519=
NM_001284290.2:c.1119G=	NP_001271219.1:p.Leu373=
NM_001293104.2:c.987G=	NP_001280033.1:p.Leu329=
NM_001293105.2:c.900G=	NP_001280034.1:p.Leu300=
NR_120531.2:n.1502G=