Canonical Allele Identifier: CA1713854637

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960972C= , CM000669.2:g.65960972C=	GRCh38
NC_000007.13:g.65425959C= , CM000669.1:g.65425959C=	GRCh37
NC_000007.12:g.65063394C=	NCBI36
NG_016197.1:g.26343G=
NG_051954.1:g.92874C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1881G= MANE Select	ENSP00000302728.4:p.Trp627=
ENST00000304895.8:c.1881G=	ENSP00000302728.4:p.Trp627=
ENST00000421103.5:c.1443G=	ENSP00000391390.1:p.Trp481=
ENST00000430730.5:c.*1148G=	ENSP00000411859.1:n.*1148G=
ENST00000447929.5:c.*1261G=	ENSP00000411262.1:n.*1261G=
ENST00000466883.5:n.2271G=
NM_000181.3:c.1881G=	NP_000172.2:p.Trp627=
NM_001284290.1:c.1443G=	NP_001271219.1:p.Trp481=
NM_001293104.1:c.1311G=	NP_001280033.1:p.Trp437=
NM_001293105.1:c.1224G=	NP_001280034.1:p.Trp408=
NR_120531.1:n.1927G=
XM_005250297.3:c.1728G=	XP_005250354.1:p.Trp576=
XM_011516113.1:c.1380G=	XP_011514415.1:p.Trp460=
XM_011516114.1:c.1209G=	XP_011514416.1:p.Trp403=
XM_005250297.4:c.1728G=	XP_005250354.1:p.Trp576=
XM_011516114.2:c.1209G=	XP_011514416.1:p.Trp403=
XM_017012091.1:c.1227G=	XP_016867580.1:p.Trp409=
XM_017012092.1:c.1158G=	XP_016867581.1:p.Trp386=
XM_017012093.2:c.1056G=	XP_016867582.1:p.Trp352=
XR_001744658.2:n.1688G=
XR_001744659.2:n.1801G=
XR_001744660.2:n.1733G=
XR_001744661.2:n.1648G=
XR_927461.3:n.1886G=
NM_000181.4:c.1881G= MANE Select	NP_000172.2:p.Trp627=
NM_001284290.2:c.1443G=	NP_001271219.1:p.Trp481=
NM_001293104.2:c.1311G=	NP_001280033.1:p.Trp437=
NM_001293105.2:c.1224G=	NP_001280034.1:p.Trp408=
NR_120531.2:n.1826G=