Canonical Allele Identifier: CA367639925

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432767G>T (hg19) ; chr7:g.65967780G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967780G>T , CM000669.2:g.65967780G>T	GRCh38
NC_000007.13:g.65432767G>T , CM000669.1:g.65432767G>T	GRCh37
NC_000007.12:g.65070202G>T	NCBI36
NG_016197.1:g.19535C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1604C>A MANE Select	ENSP00000302728.4:p.Pro535His
ENST00000304895.8:c.1604C>A	ENSP00000302728.4:p.Pro535His
ENST00000421103.5:c.1166C>A	ENSP00000391390.1:p.Pro389His
ENST00000430730.5:c.*871C>A	ENSP00000411859.1:n.*871C>A
ENST00000447929.5:c.*984C>A	ENSP00000411262.1:n.*984C>A
ENST00000461622.1:n.129C>A
ENST00000462371.1:n.642C>A
ENST00000466883.5:n.1994C>A
NM_000181.3:c.1604C>A	NP_000172.2:p.Pro535His
NM_001284290.1:c.1166C>A	NP_001271219.1:p.Pro389His
NM_001293104.1:c.1034C>A	NP_001280033.1:p.Pro345His
NM_001293105.1:c.947C>A	NP_001280034.1:p.Pro316His
NR_120531.1:n.1650C>A
XM_005250297.3:c.1451C>A	XP_005250354.1:p.Pro484His
XM_011516113.1:c.1103C>A	XP_011514415.1:p.Pro368His
XM_011516114.1:c.932C>A	XP_011514416.1:p.Pro311His
XR_927461.1:n.1690C>A
XM_005250297.4:c.1451C>A	XP_005250354.1:p.Pro484His
XM_011516114.2:c.932C>A	XP_011514416.1:p.Pro311His
XM_017012091.1:c.950C>A	XP_016867580.1:p.Pro317His
XM_017012092.1:c.881C>A	XP_016867581.1:p.Pro294His
XM_017012093.2:c.779C>A	XP_016867582.1:p.Pro260His
XR_001744658.2:n.1411C>A
XR_001744659.2:n.1524C>A
XR_001744660.2:n.1456C>A
XR_001744661.2:n.1371C>A
XR_927461.3:n.1609C>A
NM_000181.4:c.1604C>A MANE Select	NP_000172.2:p.Pro535His
NM_001284290.2:c.1166C>A	NP_001271219.1:p.Pro389His
NM_001293104.2:c.1034C>A	NP_001280033.1:p.Pro345His
NM_001293105.2:c.947C>A	NP_001280034.1:p.Pro316His
NR_120531.2:n.1549C>A