Canonical Allele Identifier: CA367639701

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432719T>C (hg19) ; chr7:g.65967732T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967732T>C , CM000669.2:g.65967732T>C	GRCh38
NC_000007.13:g.65432719T>C , CM000669.1:g.65432719T>C	GRCh37
NC_000007.12:g.65070154T>C	NCBI36
NG_016197.1:g.19583A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1652A>G MANE Select	ENSP00000302728.4:p.Gln551Arg
ENST00000304895.8:c.1652A>G	ENSP00000302728.4:p.Gln551Arg
ENST00000421103.5:c.1214A>G	ENSP00000391390.1:p.Gln405Arg
ENST00000430730.5:c.*919A>G	ENSP00000411859.1:n.*919A>G
ENST00000447929.5:c.*1032A>G	ENSP00000411262.1:n.*1032A>G
ENST00000461622.1:n.177A>G
ENST00000462371.1:n.690A>G
ENST00000466883.5:n.2042A>G
NM_000181.3:c.1652A>G	NP_000172.2:p.Gln551Arg
NM_001284290.1:c.1214A>G	NP_001271219.1:p.Gln405Arg
NM_001293104.1:c.1082A>G	NP_001280033.1:p.Gln361Arg
NM_001293105.1:c.995A>G	NP_001280034.1:p.Gln332Arg
NR_120531.1:n.1698A>G
XM_005250297.3:c.1499A>G	XP_005250354.1:p.Gln500Arg
XM_011516113.1:c.1151A>G	XP_011514415.1:p.Gln384Arg
XM_011516114.1:c.980A>G	XP_011514416.1:p.Gln327Arg
XR_927461.1:n.1738A>G
XM_005250297.4:c.1499A>G	XP_005250354.1:p.Gln500Arg
XM_011516114.2:c.980A>G	XP_011514416.1:p.Gln327Arg
XM_017012091.1:c.998A>G	XP_016867580.1:p.Gln333Arg
XM_017012092.1:c.929A>G	XP_016867581.1:p.Gln310Arg
XM_017012093.2:c.827A>G	XP_016867582.1:p.Gln276Arg
XR_001744658.2:n.1459A>G
XR_001744659.2:n.1572A>G
XR_001744660.2:n.1504A>G
XR_001744661.2:n.1419A>G
XR_927461.3:n.1657A>G
NM_000181.4:c.1652A>G MANE Select	NP_000172.2:p.Gln551Arg
NM_001284290.2:c.1214A>G	NP_001271219.1:p.Gln405Arg
NM_001293104.2:c.1082A>G	NP_001280033.1:p.Gln361Arg
NM_001293105.2:c.995A>G	NP_001280034.1:p.Gln332Arg
NR_120531.2:n.1597A>G