Canonical Allele Identifier: CA220466
Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 905
dbSNP Id: rs121918181
gnomAD v2: 7-65444769-G-A
gnomAD v3: 7-65979782-G-A
gnomAD v4: 7-65979782-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65979782G>A , CM000669.2:g.65979782G>A GRCh38
NC_000007.13:g.65444769G>A , CM000669.1:g.65444769G>A GRCh37
NC_000007.12:g.65082204G>A NCBI36
NG_016197.1:g.7533C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.526C>T MANE Select ENSP00000302728.4:p.Leu176Phe
ENST00000304895.8:c.526C>T ENSP00000302728.4:p.Leu176Phe
ENST00000421103.5:c.474+52C>T ENSP00000391390.1:n.474+52C>T
ENST00000430730.5:c.396+442C>T ENSP00000411859.1:n.396+442C>T
ENST00000446111.1:c.397-241C>T ENSP00000416793.1:n.397-241C>T
ENST00000447929.5:c.397-241C>T ENSP00000411262.1:n.397-241C>T
ENST00000475316.5:n.115+2192C>T
ENST00000476486.5:n.385+52C>T
ENST00000478118.1:n.452C>T
ENST00000479038.1:n.188+442C>T
NM_000181.3:c.526C>T NP_000172.2:p.Leu176Phe
NM_001284290.1:c.474+52C>T NP_001271219.1:n.474+52C>T
NM_001293104.1:c.12-241C>T NP_001280033.1:n.12-241C>T
NM_001293105.1:c.67+442C>T NP_001280034.1:n.67+442C>T
NR_120531.1:n.657C>T
XM_005250297.3:c.526C>T XP_005250354.1:p.Leu176Phe
XM_011516113.1:c.68-241C>T XP_011514415.1:n.68-241C>T
XM_011516114.1:c.-160C>T XP_011514416.1:n.-160C>T
XR_927461.1:n.652C>T
XM_005250297.4:c.526C>T XP_005250354.1:p.Leu176Phe
XM_011516114.2:c.-160C>T XP_011514416.1:n.-160C>T
XM_017012091.1:c.68-241C>T XP_016867580.1:n.68-241C>T
XM_017012092.1:c.12-241C>T XP_016867581.1:n.12-241C>T
XM_017012093.2:c.-160C>T XP_016867582.1:n.-160C>T
XR_001744658.2:n.571C>T
XR_001744659.2:n.571C>T
XR_001744660.2:n.571C>T
XR_001744661.2:n.571C>T
XR_927461.3:n.571C>T
NM_000181.4:c.526C>T MANE Select NP_000172.2:p.Leu176Phe
NM_001284290.2:c.474+52C>T NP_001271219.1:n.474+52C>T
NM_001293104.2:c.12-241C>T NP_001280033.1:n.12-241C>T
NM_001293105.2:c.67+442C>T NP_001280034.1:n.67+442C>T
NR_120531.2:n.556C>T