Canonical Allele Identifier: CA199717
Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 908
dbSNP Id: rs121918185
gnomAD v2: 7-65439688-G-A
gnomAD v3: 7-65974701-G-A
gnomAD v4: 7-65974701-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65974701G>A , CM000669.2:g.65974701G>A GRCh38
NC_000007.13:g.65439688G>A , CM000669.1:g.65439688G>A GRCh37
NC_000007.12:g.65077123G>A NCBI36
NG_016197.1:g.12614C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.1069C>T MANE Select ENSP00000302728.4:p.Arg357Ter
ENST00000304895.8:c.1069C>T ENSP00000302728.4:p.Arg357Ter
ENST00000421103.5:c.631C>T ENSP00000391390.1:p.Arg211Ter
ENST00000430730.5:c.*336C>T ENSP00000411859.1:n.*336C>T
ENST00000447929.5:c.*449C>T ENSP00000411262.1:n.*449C>T
ENST00000462371.1:n.147C>T
ENST00000465785.5:n.302C>T
ENST00000466883.5:n.1460C>T
ENST00000475316.5:n.307C>T
ENST00000479038.1:n.192C>T
ENST00000489482.1:n.306C>T
NM_000181.3:c.1069C>T NP_000172.2:p.Arg357Ter
NM_001284290.1:c.631C>T NP_001271219.1:p.Arg211Ter
NM_001293104.1:c.499C>T NP_001280033.1:p.Arg167Ter
NM_001293105.1:c.412C>T NP_001280034.1:p.Arg138Ter
NR_120531.1:n.1200C>T
XM_005250297.3:c.916C>T XP_005250354.1:p.Arg306Ter
XM_011516113.1:c.568C>T XP_011514415.1:p.Arg190Ter
XM_011516114.1:c.397C>T XP_011514416.1:p.Arg133Ter
XR_927461.1:n.1195C>T
XM_005250297.4:c.916C>T XP_005250354.1:p.Arg306Ter
XM_011516114.2:c.397C>T XP_011514416.1:p.Arg133Ter
XM_017012091.1:c.415C>T XP_016867580.1:p.Arg139Ter
XM_017012092.1:c.346C>T XP_016867581.1:p.Arg116Ter
XM_017012093.2:c.244C>T XP_016867582.1:p.Arg82Ter
XR_001744658.2:n.961C>T
XR_001744659.2:n.1114C>T
XR_001744660.2:n.961C>T
XR_001744661.2:n.961C>T
XR_927461.3:n.1114C>T
NM_000181.4:c.1069C>T MANE Select NP_000172.2:p.Arg357Ter
NM_001284290.2:c.631C>T NP_001271219.1:p.Arg211Ter
NM_001293104.2:c.499C>T NP_001280033.1:p.Arg167Ter
NM_001293105.2:c.412C>T NP_001280034.1:p.Arg138Ter
NR_120531.2:n.1099C>T