Canonical Allele Identifier: CA1713864833

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967853A= , CM000669.2:g.65967853A=	GRCh38
NC_000007.13:g.65432840A= , CM000669.1:g.65432840A=	GRCh37
NC_000007.12:g.65070275A=	NCBI36
NG_016197.1:g.19462T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1531T= MANE Select	ENSP00000302728.4:p.Tyr511=
ENST00000304895.8:c.1531T=	ENSP00000302728.4:p.Tyr511=
ENST00000421103.5:c.1093T=	ENSP00000391390.1:p.Tyr365=
ENST00000430730.5:c.*798T=	ENSP00000411859.1:n.*798T=
ENST00000447929.5:c.*911T=	ENSP00000411262.1:n.*911T=
ENST00000461622.1:n.56T=
ENST00000462371.1:n.569T=
ENST00000466883.5:n.1921T=
NM_000181.3:c.1531T=	NP_000172.2:p.Tyr511=
NM_001284290.1:c.1093T=	NP_001271219.1:p.Tyr365=
NM_001293104.1:c.961T=	NP_001280033.1:p.Tyr321=
NM_001293105.1:c.874T=	NP_001280034.1:p.Tyr292=
NR_120531.1:n.1577T=
XM_005250297.3:c.1378T=	XP_005250354.1:p.Tyr460=
XM_011516113.1:c.1030T=	XP_011514415.1:p.Tyr344=
XM_011516114.1:c.859T=	XP_011514416.1:p.Tyr287=
XR_927461.1:n.1617T=
XM_005250297.4:c.1378T=	XP_005250354.1:p.Tyr460=
XM_011516114.2:c.859T=	XP_011514416.1:p.Tyr287=
XM_017012091.1:c.877T=	XP_016867580.1:p.Tyr293=
XM_017012092.1:c.808T=	XP_016867581.1:p.Tyr270=
XM_017012093.2:c.706T=	XP_016867582.1:p.Tyr236=
XR_001744658.2:n.1338T=
XR_001744659.2:n.1451T=
XR_001744660.2:n.1383T=
XR_001744661.2:n.1298T=
XR_927461.3:n.1536T=
NM_000181.4:c.1531T= MANE Select	NP_000172.2:p.Tyr511=
NM_001284290.2:c.1093T=	NP_001271219.1:p.Tyr365=
NM_001293104.2:c.961T=	NP_001280033.1:p.Tyr321=
NM_001293105.2:c.874T=	NP_001280034.1:p.Tyr292=
NR_120531.2:n.1476T=