Canonical Allele Identifier: CA1713854840

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961051A= , CM000669.2:g.65961051A=	GRCh38
NC_000007.13:g.65426038A= , CM000669.1:g.65426038A=	GRCh37
NC_000007.12:g.65063473A=	NCBI36
NG_016197.1:g.26264T=
NG_051954.1:g.92953A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1802T= MANE Select	ENSP00000302728.4:p.Val601=
ENST00000304895.8:c.1802T=	ENSP00000302728.4:p.Val601=
ENST00000421103.5:c.1364T=	ENSP00000391390.1:p.Val455=
ENST00000430730.5:c.*1069T=	ENSP00000411859.1:n.*1069T=
ENST00000447929.5:c.*1182T=	ENSP00000411262.1:n.*1182T=
ENST00000466883.5:n.2192T=
NM_000181.3:c.1802T=	NP_000172.2:p.Val601=
NM_001284290.1:c.1364T=	NP_001271219.1:p.Val455=
NM_001293104.1:c.1232T=	NP_001280033.1:p.Val411=
NM_001293105.1:c.1145T=	NP_001280034.1:p.Val382=
NR_120531.1:n.1848T=
XM_005250297.3:c.1649T=	XP_005250354.1:p.Val550=
XM_011516113.1:c.1301T=	XP_011514415.1:p.Val434=
XM_011516114.1:c.1130T=	XP_011514416.1:p.Val377=
XM_005250297.4:c.1649T=	XP_005250354.1:p.Val550=
XM_011516114.2:c.1130T=	XP_011514416.1:p.Val377=
XM_017012091.1:c.1148T=	XP_016867580.1:p.Val383=
XM_017012092.1:c.1079T=	XP_016867581.1:p.Val360=
XM_017012093.2:c.977T=	XP_016867582.1:p.Val326=
XR_001744658.2:n.1609T=
XR_001744659.2:n.1722T=
XR_001744660.2:n.1654T=
XR_001744661.2:n.1569T=
XR_927461.3:n.1807T=
NM_000181.4:c.1802T= MANE Select	NP_000172.2:p.Val601=
NM_001284290.2:c.1364T=	NP_001271219.1:p.Val455=
NM_001293104.2:c.1232T=	NP_001280033.1:p.Val411=
NM_001293105.2:c.1145T=	NP_001280034.1:p.Val382=
NR_120531.2:n.1747T=