Canonical Allele Identifier: CA1713864371

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967731C= , CM000669.2:g.65967731C=	GRCh38
NC_000007.13:g.65432718C= , CM000669.1:g.65432718C=	GRCh37
NC_000007.12:g.65070153C=	NCBI36
NG_016197.1:g.19584G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1653G= MANE Select	ENSP00000302728.4:p.Gln551=
ENST00000304895.8:c.1653G=	ENSP00000302728.4:p.Gln551=
ENST00000421103.5:c.1215G=	ENSP00000391390.1:p.Gln405=
ENST00000430730.5:c.*920G=	ENSP00000411859.1:n.*920G=
ENST00000447929.5:c.*1033G=	ENSP00000411262.1:n.*1033G=
ENST00000461622.1:n.178G=
ENST00000462371.1:n.691G=
ENST00000466883.5:n.2043G=
NM_000181.3:c.1653G=	NP_000172.2:p.Gln551=
NM_001284290.1:c.1215G=	NP_001271219.1:p.Gln405=
NM_001293104.1:c.1083G=	NP_001280033.1:p.Gln361=
NM_001293105.1:c.996G=	NP_001280034.1:p.Gln332=
NR_120531.1:n.1699G=
XM_005250297.3:c.1500G=	XP_005250354.1:p.Gln500=
XM_011516113.1:c.1152G=	XP_011514415.1:p.Gln384=
XM_011516114.1:c.981G=	XP_011514416.1:p.Gln327=
XR_927461.1:n.1739G=
XM_005250297.4:c.1500G=	XP_005250354.1:p.Gln500=
XM_011516114.2:c.981G=	XP_011514416.1:p.Gln327=
XM_017012091.1:c.999G=	XP_016867580.1:p.Gln333=
XM_017012092.1:c.930G=	XP_016867581.1:p.Gln310=
XM_017012093.2:c.828G=	XP_016867582.1:p.Gln276=
XR_001744658.2:n.1460G=
XR_001744659.2:n.1573G=
XR_001744660.2:n.1505G=
XR_001744661.2:n.1420G=
XR_927461.3:n.1658G=
NM_000181.4:c.1653G= MANE Select	NP_000172.2:p.Gln551=
NM_001284290.2:c.1215G=	NP_001271219.1:p.Gln405=
NM_001293104.2:c.1083G=	NP_001280033.1:p.Gln361=
NM_001293105.2:c.996G=	NP_001280034.1:p.Gln332=
NR_120531.2:n.1598G=