Canonical Allele Identifier: CA339843
Gene: GUSB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 899
ClinVar RCV Id: RCV000000947
dbSNP Id: rs121918178

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65967900T>C , CM000669.2:g.65967900T>C GRCh38
NC_000007.13:g.65432887T>C , CM000669.1:g.65432887T>C GRCh37
NC_000007.12:g.65070322T>C NCBI36
NG_016197.1:g.19415A>G

Transcript Alleles

HGVS Amino-acid change
NM_000181.3:c.1484A>G VV NP_000172.2:p.Tyr495Cys
NM_001284290.1:c.1046A>G VV NP_001271219.1:p.Tyr349Cys
NM_001293104.1:c.914A>G VV NP_001280033.1:p.Tyr305Cys
NM_001293105.1:c.827A>G VV NP_001280034.1:p.Tyr276Cys
NR_120531.1:n.1530A>G
XM_005250297.3:c.1331A>G XP_005250354.1:p.Tyr444Cys
XM_011516113.1:c.983A>G XP_011514415.1:p.Tyr328Cys
XM_011516114.1:c.812A>G XP_011514416.1:p.Tyr271Cys
XR_927461.1:n.1570A>G
XM_005250297.4:c.1331A>G
XM_011516114.2:c.812A>G
XM_017012091.1:c.830A>G XP_016867580.1:p.Tyr277Cys
XM_017012092.1:c.761A>G XP_016867581.1:p.Tyr254Cys
XM_017012093.2:c.659A>G XP_016867582.1:p.Tyr220Cys
XR_001744658.2:n.1291A>G
XR_001744659.2:n.1404A>G
XR_001744660.2:n.1336A>G
XR_001744661.2:n.1251A>G
XR_927461.3:n.1489A>G
NM_000181.4:c.1484A>G VV MANE Preferred
ENST00000304895.8:c.1484A>G ENSP00000302728.4:p.Tyr495Cys
ENST00000421103.5:c.1046A>G ENSP00000391390.1:p.Tyr349Cys
ENST00000430730.5:c.*751A>G ENSP00000411859.1:p.=
ENST00000447929.5:c.*864A>G ENSP00000411262.1:p.=
ENST00000461622.1:n.9A>G
ENST00000462371.1:n.522A>G
ENST00000466883.5:n.1874A>G