Canonical Allele Identifier: CA339844

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967863C>T , CM000669.2:g.65967863C>T	GRCh38
NC_000007.13:g.65432850C>T , CM000669.1:g.65432850C>T	GRCh37
NC_000007.12:g.65070285C>T	NCBI36
NG_016197.1:g.19452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1521G>A MANE Select	ENSP00000302728.4:p.Trp507Ter
ENST00000304895.8:c.1521G>A	ENSP00000302728.4:p.Trp507Ter
ENST00000421103.5:c.1083G>A	ENSP00000391390.1:p.Trp361Ter
ENST00000430730.5:c.*788G>A	ENSP00000411859.1:n.*788G>A
ENST00000447929.5:c.*901G>A	ENSP00000411262.1:n.*901G>A
ENST00000461622.1:n.46G>A
ENST00000462371.1:n.559G>A
ENST00000466883.5:n.1911G>A
NM_000181.3:c.1521G>A	NP_000172.2:p.Trp507Ter
NM_001284290.1:c.1083G>A	NP_001271219.1:p.Trp361Ter
NM_001293104.1:c.951G>A	NP_001280033.1:p.Trp317Ter
NM_001293105.1:c.864G>A	NP_001280034.1:p.Trp288Ter
NR_120531.1:n.1567G>A
XM_005250297.3:c.1368G>A	XP_005250354.1:p.Trp456Ter
XM_011516113.1:c.1020G>A	XP_011514415.1:p.Trp340Ter
XM_011516114.1:c.849G>A	XP_011514416.1:p.Trp283Ter
XR_927461.1:n.1607G>A
XM_005250297.4:c.1368G>A	XP_005250354.1:p.Trp456Ter
XM_011516114.2:c.849G>A	XP_011514416.1:p.Trp283Ter
XM_017012091.1:c.867G>A	XP_016867580.1:p.Trp289Ter
XM_017012092.1:c.798G>A	XP_016867581.1:p.Trp266Ter
XM_017012093.2:c.696G>A	XP_016867582.1:p.Trp232Ter
XR_001744658.2:n.1328G>A
XR_001744659.2:n.1441G>A
XR_001744660.2:n.1373G>A
XR_001744661.2:n.1288G>A
XR_927461.3:n.1526G>A
NM_000181.4:c.1521G>A MANE Select	NP_000172.2:p.Trp507Ter
NM_001284290.2:c.1083G>A	NP_001271219.1:p.Trp361Ter
NM_001293104.2:c.951G>A	NP_001280033.1:p.Trp317Ter
NM_001293105.2:c.864G>A	NP_001280034.1:p.Trp288Ter
NR_120531.2:n.1466G>A