Canonical Allele Identifier: CA367641400

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65970289T>C , CM000669.2:g.65970289T>C	GRCh38
NC_000007.13:g.65435276T>C , CM000669.1:g.65435276T>C	GRCh37
NC_000007.12:g.65072711T>C	NCBI36
NG_016197.1:g.17026A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.1469A>G MANE Select	NP_000172.2:p.Asp490Gly
ENST00000304895.9:c.1469A>G MANE Select	ENSP00000302728.4:p.Asp490Gly
NM_000181.3:c.1469A>G	NP_000172.2:p.Asp490Gly
NM_001284290.1:c.1031A>G	NP_001271219.1:p.Asp344Gly
NM_001284290.2:c.1031A>G	NP_001271219.1:p.Asp344Gly
NM_001293104.1:c.899A>G	NP_001280033.1:p.Asp300Gly
NM_001293104.2:c.899A>G	NP_001280033.1:p.Asp300Gly
NM_001293105.1:c.812A>G	NP_001280034.1:p.Asp271Gly
NM_001293105.2:c.812A>G	NP_001280034.1:p.Asp271Gly
NR_120531.1:n.1523-2382A>G
NR_120531.2:n.1422-2382A>G
ENST00000304895.8:c.1469A>G	ENSP00000302728.4:p.Asp490Gly
ENST00000421103.5:c.1031A>G	ENSP00000391390.1:p.Asp344Gly
ENST00000430730.5:c.*736A>G	ENSP00000411859.1:n.*736A>G
ENST00000447929.5:c.*849A>G	ENSP00000411262.1:n.*849A>G
ENST00000462371.1:n.507A>G
ENST00000466883.5:n.1867-2382A>G
XM_005250297.3:c.1316A>G	XP_005250354.1:p.Asp439Gly
XM_005250297.4:c.1316A>G	XP_005250354.1:p.Asp439Gly
XM_011516113.1:c.968A>G	XP_011514415.1:p.Asp323Gly
XM_011516114.1:c.797A>G	XP_011514416.1:p.Asp266Gly
XM_011516114.2:c.797A>G	XP_011514416.1:p.Asp266Gly
XM_017012091.1:c.815A>G	XP_016867580.1:p.Asp272Gly
XM_017012092.1:c.746A>G	XP_016867581.1:p.Asp249Gly
XM_017012093.2:c.644A>G	XP_016867582.1:p.Asp215Gly
XR_001744658.2:n.1284-2382A>G
XR_001744659.2:n.1397-2382A>G
XR_001744660.2:n.1321A>G
XR_001744661.2:n.1244-2382A>G
XR_927461.1:n.1555A>G
XR_927461.3:n.1474A>G