Canonical Allele Identifier: CA1713864674

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967789T= , CM000669.2:g.65967789T=	GRCh38
NC_000007.13:g.65432776T= , CM000669.1:g.65432776T=	GRCh37
NC_000007.12:g.65070211T=	NCBI36
NG_016197.1:g.19526A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1595A= MANE Select	ENSP00000302728.4:p.Tyr532=
ENST00000304895.8:c.1595A=	ENSP00000302728.4:p.Tyr532=
ENST00000421103.5:c.1157A=	ENSP00000391390.1:p.Tyr386=
ENST00000430730.5:c.*862A=	ENSP00000411859.1:n.*862A=
ENST00000447929.5:c.*975A=	ENSP00000411262.1:n.*975A=
ENST00000461622.1:n.120A=
ENST00000462371.1:n.633A=
ENST00000466883.5:n.1985A=
NM_000181.3:c.1595A=	NP_000172.2:p.Tyr532=
NM_001284290.1:c.1157A=	NP_001271219.1:p.Tyr386=
NM_001293104.1:c.1025A=	NP_001280033.1:p.Tyr342=
NM_001293105.1:c.938A=	NP_001280034.1:p.Tyr313=
NR_120531.1:n.1641A=
XM_005250297.3:c.1442A=	XP_005250354.1:p.Tyr481=
XM_011516113.1:c.1094A=	XP_011514415.1:p.Tyr365=
XM_011516114.1:c.923A=	XP_011514416.1:p.Tyr308=
XR_927461.1:n.1681A=
XM_005250297.4:c.1442A=	XP_005250354.1:p.Tyr481=
XM_011516114.2:c.923A=	XP_011514416.1:p.Tyr308=
XM_017012091.1:c.941A=	XP_016867580.1:p.Tyr314=
XM_017012092.1:c.872A=	XP_016867581.1:p.Tyr291=
XM_017012093.2:c.770A=	XP_016867582.1:p.Tyr257=
XR_001744658.2:n.1402A=
XR_001744659.2:n.1515A=
XR_001744660.2:n.1447A=
XR_001744661.2:n.1362A=
XR_927461.3:n.1600A=
NM_000181.4:c.1595A= MANE Select	NP_000172.2:p.Tyr532=
NM_001284290.2:c.1157A=	NP_001271219.1:p.Tyr386=
NM_001293104.2:c.1025A=	NP_001280033.1:p.Tyr342=
NM_001293105.2:c.938A=	NP_001280034.1:p.Tyr313=
NR_120531.2:n.1540A=