Canonical Allele Identifier: CA1713854283

Gene: GUSB

Linked Data

• dbSNP Id: rs909063611
• gnomAD v4: 7-65960861-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960861G>C , CM000669.2:g.65960861G>C	GRCh38
NC_000007.13:g.65425848G>C , CM000669.1:g.65425848G>C	GRCh37
NC_000007.12:g.65063283G>C	NCBI36
NG_016197.1:g.26454C>G
NG_051954.1:g.92763G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*36C>G MANE Select	ENSP00000302728.4:n.*36C>G
ENST00000304895.8:c.*36C>G	ENSP00000302728.4:n.*36C>G
ENST00000421103.5:c.*36C>G	ENSP00000391390.1:n.*36C>G
ENST00000430730.5:c.*1259C>G	ENSP00000411859.1:n.*1259C>G
ENST00000447929.5:c.*1372C>G	ENSP00000411262.1:n.*1372C>G
ENST00000466883.5:n.2382C>G
NM_000181.3:c.*36C>G	NP_000172.2:n.*36C>G
NM_001284290.1:c.*36C>G	NP_001271219.1:n.*36C>G
NM_001293104.1:c.*36C>G	NP_001280033.1:n.*36C>G
NM_001293105.1:c.*36C>G	NP_001280034.1:n.*36C>G
NR_120531.1:n.2038C>G
XM_005250297.3:c.*36C>G	XP_005250354.1:n.*36C>G
XM_011516113.1:c.*36C>G	XP_011514415.1:n.*36C>G
XM_011516114.1:c.*36C>G	XP_011514416.1:n.*36C>G
XM_005250297.4:c.*36C>G	XP_005250354.1:n.*36C>G
XM_011516114.2:c.*36C>G	XP_011514416.1:n.*36C>G
XM_017012091.1:c.*36C>G	XP_016867580.1:n.*36C>G
XM_017012092.1:c.*36C>G	XP_016867581.1:n.*36C>G
XM_017012093.2:c.*36C>G	XP_016867582.1:n.*36C>G
XR_001744658.2:n.1799C>G
XR_001744659.2:n.1912C>G
XR_001744660.2:n.1844C>G
XR_001744661.2:n.1759C>G
XR_927461.3:n.1997C>G
NM_000181.4:c.*36C>G MANE Select	NP_000172.2:n.*36C>G
NM_001284290.2:c.*36C>G	NP_001271219.1:n.*36C>G
NM_001293104.2:c.*36C>G	NP_001280033.1:n.*36C>G
NM_001293105.2:c.*36C>G	NP_001280034.1:n.*36C>G
NR_120531.2:n.1937C>G