Canonical Allele Identifier: CA367640158

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432812T>C (hg19) ; chr7:g.65967825T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967825T>C , CM000669.2:g.65967825T>C	GRCh38
NC_000007.13:g.65432812T>C , CM000669.1:g.65432812T>C	GRCh37
NC_000007.12:g.65070247T>C	NCBI36
NG_016197.1:g.19490A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1559A>G MANE Select	ENSP00000302728.4:p.Gln520Arg
ENST00000304895.8:c.1559A>G	ENSP00000302728.4:p.Gln520Arg
ENST00000421103.5:c.1121A>G	ENSP00000391390.1:p.Gln374Arg
ENST00000430730.5:c.*826A>G	ENSP00000411859.1:n.*826A>G
ENST00000447929.5:c.*939A>G	ENSP00000411262.1:n.*939A>G
ENST00000461622.1:n.84A>G
ENST00000462371.1:n.597A>G
ENST00000466883.5:n.1949A>G
NM_000181.3:c.1559A>G	NP_000172.2:p.Gln520Arg
NM_001284290.1:c.1121A>G	NP_001271219.1:p.Gln374Arg
NM_001293104.1:c.989A>G	NP_001280033.1:p.Gln330Arg
NM_001293105.1:c.902A>G	NP_001280034.1:p.Gln301Arg
NR_120531.1:n.1605A>G
XM_005250297.3:c.1406A>G	XP_005250354.1:p.Gln469Arg
XM_011516113.1:c.1058A>G	XP_011514415.1:p.Gln353Arg
XM_011516114.1:c.887A>G	XP_011514416.1:p.Gln296Arg
XR_927461.1:n.1645A>G
XM_005250297.4:c.1406A>G	XP_005250354.1:p.Gln469Arg
XM_011516114.2:c.887A>G	XP_011514416.1:p.Gln296Arg
XM_017012091.1:c.905A>G	XP_016867580.1:p.Gln302Arg
XM_017012092.1:c.836A>G	XP_016867581.1:p.Gln279Arg
XM_017012093.2:c.734A>G	XP_016867582.1:p.Gln245Arg
XR_001744658.2:n.1366A>G
XR_001744659.2:n.1479A>G
XR_001744660.2:n.1411A>G
XR_001744661.2:n.1326A>G
XR_927461.3:n.1564A>G
NM_000181.4:c.1559A>G MANE Select	NP_000172.2:p.Gln520Arg
NM_001284290.2:c.1121A>G	NP_001271219.1:p.Gln374Arg
NM_001293104.2:c.989A>G	NP_001280033.1:p.Gln330Arg
NM_001293105.2:c.902A>G	NP_001280034.1:p.Gln301Arg
NR_120531.2:n.1504A>G