Canonical Allele Identifier: CA4276764
Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 1492506
ClinVar RCV Id: RCV001981007
dbSNP Id: rs750955623
gnomAD v2: 7-65447164-G-A
gnomAD v3: 7-65982177-G-A
gnomAD v4: 7-65982177-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65982177G>A , CM000669.2:g.65982177G>A GRCh38
NC_000007.13:g.65447164G>A , CM000669.1:g.65447164G>A GRCh37
NC_000007.12:g.65084599G>A NCBI36
NG_016197.1:g.5138C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.7C>T MANE Select ENSP00000302728.4:p.Arg3Trp
ENST00000304895.8:c.7C>T ENSP00000302728.4:p.Arg3Trp
ENST00000421103.5:c.7C>T ENSP00000391390.1:p.Arg3Trp
ENST00000430730.5:c.7C>T ENSP00000411859.1:p.Arg3Trp
ENST00000446111.1:c.7C>T ENSP00000416793.1:p.Arg3Trp
ENST00000447929.5:c.7C>T ENSP00000411262.1:p.Arg3Trp
NM_000181.3:c.7C>T NP_000172.2:p.Arg3Trp
NM_001284290.1:c.7C>T NP_001271219.1:p.Arg3Trp
NM_001293104.1:c.-379C>T NP_001280033.1:n.-379C>T
NM_001293105.1:c.-323C>T NP_001280034.1:n.-323C>T
NR_120531.1:n.138C>T
XM_005250297.3:c.7C>T XP_005250354.1:p.Arg3Trp
XM_011516113.1:c.-323C>T XP_011514415.1:n.-323C>T
XR_927461.1:n.133C>T
XM_005250297.4:c.7C>T XP_005250354.1:p.Arg3Trp
XM_011516114.2:c.-679C>T XP_011514416.1:n.-679C>T
XM_017012091.1:c.-323C>T XP_016867580.1:n.-323C>T
XM_017012092.1:c.-379C>T XP_016867581.1:n.-379C>T
XM_017012093.2:c.-679C>T XP_016867582.1:n.-679C>T
XR_001744658.2:n.52C>T
XR_001744659.2:n.52C>T
XR_001744660.2:n.52C>T
XR_001744661.2:n.52C>T
XR_927461.3:n.52C>T
NM_000181.4:c.7C>T MANE Select NP_000172.2:p.Arg3Trp
NM_001284290.2:c.7C>T NP_001271219.1:p.Arg3Trp
NM_001293104.2:c.-379C>T NP_001280033.1:n.-379C>T
NM_001293105.2:c.-323C>T NP_001280034.1:n.-323C>T
NR_120531.2:n.37C>T