Canonical Allele Identifier: CA4276522

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65976189G>C , CM000669.2:g.65976189G>C	GRCh38
NC_000007.13:g.65441176G>C , CM000669.1:g.65441176G>C	GRCh37
NC_000007.12:g.65078611G>C	NCBI36
NG_016197.1:g.11126C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.738C>G MANE Select	NP_000172.2:p.Tyr246Ter
ENST00000304895.9:c.738C>G MANE Select	ENSP00000302728.4:p.Tyr246Ter
NM_000181.3:c.738C>G	NP_000172.2:p.Tyr246Ter
NM_001284290.1:c.475-1118C>G	NP_001271219.1:n.475-1118C>G
NM_001284290.2:c.475-1118C>G	NP_001271219.1:n.475-1118C>G
NM_001293104.1:c.168C>G	NP_001280033.1:p.Tyr56Ter
NM_001293104.2:c.168C>G	NP_001280033.1:p.Tyr56Ter
NM_001293105.1:c.81C>G	NP_001280034.1:p.Tyr27Ter
NM_001293105.2:c.81C>G	NP_001280034.1:p.Tyr27Ter
NR_120531.1:n.869C>G
NR_120531.2:n.768C>G
ENST00000304895.8:c.738C>G	ENSP00000302728.4:p.Tyr246Ter
ENST00000421103.5:c.475-1118C>G	ENSP00000391390.1:n.475-1118C>G
ENST00000430730.5:c.*5C>G	ENSP00000411859.1:n.*5C>G
ENST00000446111.1:c.*131C>G	ENSP00000416793.1:n.*131C>G
ENST00000447929.5:c.*118C>G	ENSP00000411262.1:n.*118C>G
ENST00000465785.5:n.124C>G
ENST00000475316.5:n.129C>G
ENST00000476486.5:n.542C>G
ENST00000479038.1:n.189-1485C>G
XM_005250297.3:c.738C>G	XP_005250354.1:p.Tyr246Ter
XM_005250297.4:c.738C>G	XP_005250354.1:p.Tyr246Ter
XM_011516113.1:c.237C>G	XP_011514415.1:p.Tyr79Ter
XM_011516114.1:c.66C>G	XP_011514416.1:p.Tyr22Ter
XM_011516114.2:c.66C>G	XP_011514416.1:p.Tyr22Ter
XM_017012091.1:c.237C>G	XP_016867580.1:p.Tyr79Ter
XM_017012092.1:c.168C>G	XP_016867581.1:p.Tyr56Ter
XM_017012093.2:c.66C>G	XP_016867582.1:p.Tyr22Ter
XR_001744658.2:n.783C>G
XR_001744659.2:n.783C>G
XR_001744660.2:n.783C>G
XR_001744661.2:n.783C>G
XR_927461.1:n.864C>G
XR_927461.3:n.783C>G