Canonical Allele Identifier: CA367649496

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65979480G>A , CM000669.2:g.65979480G>A	GRCh38
NC_000007.13:g.65444467G>A , CM000669.1:g.65444467G>A	GRCh37
NC_000007.12:g.65081902G>A	NCBI36
NG_016197.1:g.7835C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.643C>T MANE Select	NP_000172.2:p.Gln215Ter
ENST00000304895.9:c.643C>T MANE Select	ENSP00000302728.4:p.Gln215Ter
NM_000181.3:c.643C>T	NP_000172.2:p.Gln215Ter
NM_001284290.1:c.474+354C>T	NP_001271219.1:n.474+354C>T
NM_001284290.2:c.474+354C>T	NP_001271219.1:n.474+354C>T
NM_001293104.1:c.73C>T	NP_001280033.1:p.Gln25Ter
NM_001293104.2:c.73C>T	NP_001280033.1:p.Gln25Ter
NM_001293105.1:c.67+744C>T	NP_001280034.1:n.67+744C>T
NM_001293105.2:c.67+744C>T	NP_001280034.1:n.67+744C>T
NR_120531.1:n.774C>T
NR_120531.2:n.673C>T
ENST00000304895.8:c.643C>T	ENSP00000302728.4:p.Gln215Ter
ENST00000421103.5:c.474+354C>T	ENSP00000391390.1:n.474+354C>T
ENST00000430730.5:c.396+744C>T	ENSP00000411859.1:n.396+744C>T
ENST00000446111.1:c.*23C>T	ENSP00000416793.1:n.*23C>T
ENST00000447929.5:c.*23C>T	ENSP00000411262.1:n.*23C>T
ENST00000465785.5:n.29C>T
ENST00000475316.5:n.115+2494C>T
ENST00000476486.5:n.447C>T
ENST00000478118.1:n.569C>T
ENST00000479038.1:n.188+744C>T
XM_005250297.3:c.643C>T	XP_005250354.1:p.Gln215Ter
XM_005250297.4:c.643C>T	XP_005250354.1:p.Gln215Ter
XM_011516113.1:c.129C>T	XP_011514415.1:p.Cys43=
XM_011516114.1:c.-43C>T	XP_011514416.1:n.-43C>T
XM_011516114.2:c.-43C>T	XP_011514416.1:n.-43C>T
XM_017012091.1:c.129C>T	XP_016867580.1:p.Cys43=
XM_017012092.1:c.73C>T	XP_016867581.1:p.Gln25Ter
XM_017012093.2:c.-43C>T	XP_016867582.1:n.-43C>T
XR_001744658.2:n.688C>T
XR_001744659.2:n.688C>T
XR_001744660.2:n.688C>T
XR_001744661.2:n.688C>T
XR_927461.1:n.769C>T
XR_927461.3:n.688C>T