Canonical Allele Identifier: CA339842
Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 898
ClinVar RCV Id: RCV000000946
dbSNP Id: rs121918177

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65979866G>A , CM000669.2:g.65979866G>A GRCh38
NC_000007.13:g.65444853G>A , CM000669.1:g.65444853G>A GRCh37
NC_000007.12:g.65082288G>A NCBI36
NG_016197.1:g.7449C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.442C>T MANE Select ENSP00000302728.4:p.Pro148Ser
ENST00000304895.8:c.442C>T ENSP00000302728.4:p.Pro148Ser
ENST00000421103.5:c.442C>T ENSP00000391390.1:p.Pro148Ser
ENST00000430730.5:c.396+358C>T ENSP00000411859.1:n.396+358C>T
ENST00000446111.1:c.397-325C>T ENSP00000416793.1:n.397-325C>T
ENST00000447929.5:c.397-325C>T ENSP00000411262.1:n.397-325C>T
ENST00000475316.5:n.115+2108C>T
ENST00000476486.5:n.353C>T
ENST00000478118.1:n.368C>T
ENST00000479038.1:n.188+358C>T
NM_000181.3:c.442C>T NP_000172.2:p.Pro148Ser
NM_001284290.1:c.442C>T NP_001271219.1:p.Pro148Ser
NM_001293104.1:c.12-325C>T NP_001280033.1:n.12-325C>T
NM_001293105.1:c.67+358C>T NP_001280034.1:n.67+358C>T
NR_120531.1:n.573C>T
XM_005250297.3:c.442C>T XP_005250354.1:p.Pro148Ser
XM_011516113.1:c.68-325C>T XP_011514415.1:n.68-325C>T
XM_011516114.1:c.-244C>T XP_011514416.1:n.-244C>T
XR_927461.1:n.568C>T
XM_005250297.4:c.442C>T XP_005250354.1:p.Pro148Ser
XM_011516114.2:c.-244C>T XP_011514416.1:n.-244C>T
XM_017012091.1:c.68-325C>T XP_016867580.1:n.68-325C>T
XM_017012092.1:c.12-325C>T XP_016867581.1:n.12-325C>T
XM_017012093.2:c.-244C>T XP_016867582.1:n.-244C>T
XR_001744658.2:n.487C>T
XR_001744659.2:n.487C>T
XR_001744660.2:n.487C>T
XR_001744661.2:n.487C>T
XR_927461.3:n.487C>T
NM_000181.4:c.442C>T MANE Select NP_000172.2:p.Pro148Ser
NM_001284290.2:c.442C>T NP_001271219.1:p.Pro148Ser
NM_001293104.2:c.12-325C>T NP_001280033.1:n.12-325C>T
NM_001293105.2:c.67+358C>T NP_001280034.1:n.67+358C>T
NR_120531.2:n.472C>T