Canonical Allele Identifier: CA4276728
Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 2955844
ClinVar RCV Id: RCV003810995
dbSNP Id: rs377626207
gnomAD v2: 7-65446941-G-A
gnomAD v3: 7-65981954-G-A
gnomAD v4: 7-65981954-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65981954G>A , CM000669.2:g.65981954G>A GRCh38
NC_000007.13:g.65446941G>A , CM000669.1:g.65446941G>A GRCh37
NC_000007.12:g.65084376G>A NCBI36
NG_016197.1:g.5361C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.210+20C>T MANE Select ENSP00000302728.4:n.210+20C>T
ENST00000304895.8:c.210+20C>T ENSP00000302728.4:n.210+20C>T
ENST00000421103.5:c.210+20C>T ENSP00000391390.1:n.210+20C>T
ENST00000430730.5:c.210+20C>T ENSP00000411859.1:n.210+20C>T
ENST00000446111.1:c.210+20C>T ENSP00000416793.1:n.210+20C>T
ENST00000447929.5:c.210+20C>T ENSP00000411262.1:n.210+20C>T
ENST00000475316.5:n.115+20C>T
ENST00000476486.5:n.18C>T
NM_000181.3:c.210+20C>T NP_000172.2:n.210+20C>T
NM_001284290.1:c.210+20C>T NP_001271219.1:n.210+20C>T
NM_001293104.1:c.-176+20C>T NP_001280033.1:n.-176+20C>T
NM_001293105.1:c.-120+20C>T NP_001280034.1:n.-120+20C>T
NR_120531.1:n.341+20C>T
XM_005250297.3:c.210+20C>T XP_005250354.1:n.210+20C>T
XM_011516113.1:c.-120+20C>T XP_011514415.1:n.-120+20C>T
XR_927461.1:n.336+20C>T
XM_005250297.4:c.210+20C>T XP_005250354.1:n.210+20C>T
XM_011516114.2:c.-476+20C>T XP_011514416.1:n.-476+20C>T
XM_017012091.1:c.-120+20C>T XP_016867580.1:n.-120+20C>T
XM_017012092.1:c.-176+20C>T XP_016867581.1:n.-176+20C>T
XM_017012093.2:c.-476+20C>T XP_016867582.1:n.-476+20C>T
XR_001744658.2:n.255+20C>T
XR_001744659.2:n.255+20C>T
XR_001744660.2:n.255+20C>T
XR_001744661.2:n.255+20C>T
XR_927461.3:n.255+20C>T
NM_000181.4:c.210+20C>T MANE Select NP_000172.2:n.210+20C>T
NM_001284290.2:c.210+20C>T NP_001271219.1:n.210+20C>T
NM_001293104.2:c.-176+20C>T NP_001280033.1:n.-176+20C>T
NM_001293105.2:c.-120+20C>T NP_001280034.1:n.-120+20C>T
NR_120531.2:n.240+20C>T