Canonical Allele Identifier: CA220467

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65976061C>T , CM000669.2:g.65976061C>T	GRCh38
NC_000007.13:g.65441048C>T , CM000669.1:g.65441048C>T	GRCh37
NC_000007.12:g.65078483C>T	NCBI36
NG_016197.1:g.11254G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.866G>A MANE Select	NP_000172.2:p.Trp289Ter
ENST00000304895.9:c.866G>A MANE Select	ENSP00000302728.4:p.Trp289Ter
NM_000181.3:c.866G>A	NP_000172.2:p.Trp289Ter
NM_001284290.1:c.475-990G>A	NP_001271219.1:n.475-990G>A
NM_001284290.2:c.475-990G>A	NP_001271219.1:n.475-990G>A
NM_001293104.1:c.296G>A	NP_001280033.1:p.Trp99Ter
NM_001293104.2:c.296G>A	NP_001280033.1:p.Trp99Ter
NM_001293105.1:c.209G>A	NP_001280034.1:p.Trp70Ter
NM_001293105.2:c.209G>A	NP_001280034.1:p.Trp70Ter
NR_120531.1:n.997G>A
NR_120531.2:n.896G>A
ENST00000304895.8:c.866G>A	ENSP00000302728.4:p.Trp289Ter
ENST00000421103.5:c.475-990G>A	ENSP00000391390.1:n.475-990G>A
ENST00000430730.5:c.*133G>A	ENSP00000411859.1:n.*133G>A
ENST00000446111.1:c.*259G>A	ENSP00000416793.1:n.*259G>A
ENST00000447929.5:c.*246G>A	ENSP00000411262.1:n.*246G>A
ENST00000465785.5:n.252G>A
ENST00000466883.5:n.100G>A
ENST00000475316.5:n.257G>A
ENST00000476486.5:n.670G>A
ENST00000479038.1:n.189-1357G>A
XM_005250297.3:c.866G>A	XP_005250354.1:p.Trp289Ter
XM_005250297.4:c.866G>A	XP_005250354.1:p.Trp289Ter
XM_011516113.1:c.365G>A	XP_011514415.1:p.Trp122Ter
XM_011516114.1:c.194G>A	XP_011514416.1:p.Trp65Ter
XM_011516114.2:c.194G>A	XP_011514416.1:p.Trp65Ter
XM_017012091.1:c.365G>A	XP_016867580.1:p.Trp122Ter
XM_017012092.1:c.296G>A	XP_016867581.1:p.Trp99Ter
XM_017012093.2:c.194G>A	XP_016867582.1:p.Trp65Ter
XR_001744658.2:n.911G>A
XR_001744659.2:n.911G>A
XR_001744660.2:n.911G>A
XR_001744661.2:n.911G>A
XR_927461.1:n.992G>A
XR_927461.3:n.911G>A