Canonical Allele Identifier: CA1713854060

Gene: GUSB

Linked Data

• dbSNP Id: rs1790428522
• gnomAD v4: 7-65960752-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960752T>C , CM000669.2:g.65960752T>C	GRCh38
NC_000007.13:g.65425739T>C , CM000669.1:g.65425739T>C	GRCh37
NC_000007.12:g.65063174T>C	NCBI36
NG_016197.1:g.26563A>G
NG_051954.1:g.92654T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*145A>G MANE Select	ENSP00000302728.4:n.*145A>G
ENST00000304895.8:c.*145A>G	ENSP00000302728.4:n.*145A>G
ENST00000421103.5:c.*145A>G	ENSP00000391390.1:n.*145A>G
ENST00000430730.5:c.*1368A>G	ENSP00000411859.1:n.*1368A>G
ENST00000447929.5:c.*1481A>G	ENSP00000411262.1:n.*1481A>G
ENST00000466883.5:n.2491A>G
NM_000181.3:c.*145A>G	NP_000172.2:n.*145A>G
NM_001284290.1:c.*145A>G	NP_001271219.1:n.*145A>G
NM_001293104.1:c.*145A>G	NP_001280033.1:n.*145A>G
NM_001293105.1:c.*145A>G	NP_001280034.1:n.*145A>G
NR_120531.1:n.2147A>G
XM_005250297.3:c.*145A>G	XP_005250354.1:n.*145A>G
XM_011516113.1:c.*145A>G	XP_011514415.1:n.*145A>G
XM_011516114.1:c.*145A>G	XP_011514416.1:n.*145A>G
XM_005250297.4:c.*145A>G	XP_005250354.1:n.*145A>G
XM_011516114.2:c.*145A>G	XP_011514416.1:n.*145A>G
XM_017012091.1:c.*145A>G	XP_016867580.1:n.*145A>G
XM_017012092.1:c.*145A>G	XP_016867581.1:n.*145A>G
XM_017012093.2:c.*145A>G	XP_016867582.1:n.*145A>G
XR_001744658.2:n.1908A>G
XR_001744659.2:n.2021A>G
XR_001744660.2:n.1953A>G
XR_001744661.2:n.1868A>G
XR_927461.3:n.2106A>G
NM_000181.4:c.*145A>G MANE Select	NP_000172.2:n.*145A>G
NM_001284290.2:c.*145A>G	NP_001271219.1:n.*145A>G
NM_001293104.2:c.*145A>G	NP_001280033.1:n.*145A>G
NM_001293105.2:c.*145A>G	NP_001280034.1:n.*145A>G
NR_120531.2:n.2046A>G