Canonical Allele Identifier: CA367639717

Gene: GUSB

Linked Data

• COSMIC: COSM5407804
• MyVariant Identifiers: chr7:g.65432723G>A (hg19) ; chr7:g.65967736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967736G>A , CM000669.2:g.65967736G>A	GRCh38
NC_000007.13:g.65432723G>A , CM000669.1:g.65432723G>A	GRCh37
NC_000007.12:g.65070158G>A	NCBI36
NG_016197.1:g.19579C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1648C>T MANE Select	ENSP00000302728.4:p.His550Tyr
ENST00000304895.8:c.1648C>T	ENSP00000302728.4:p.His550Tyr
ENST00000421103.5:c.1210C>T	ENSP00000391390.1:p.His404Tyr
ENST00000430730.5:c.*915C>T	ENSP00000411859.1:n.*915C>T
ENST00000447929.5:c.*1028C>T	ENSP00000411262.1:n.*1028C>T
ENST00000461622.1:n.173C>T
ENST00000462371.1:n.686C>T
ENST00000466883.5:n.2038C>T
NM_000181.3:c.1648C>T	NP_000172.2:p.His550Tyr
NM_001284290.1:c.1210C>T	NP_001271219.1:p.His404Tyr
NM_001293104.1:c.1078C>T	NP_001280033.1:p.His360Tyr
NM_001293105.1:c.991C>T	NP_001280034.1:p.His331Tyr
NR_120531.1:n.1694C>T
XM_005250297.3:c.1495C>T	XP_005250354.1:p.His499Tyr
XM_011516113.1:c.1147C>T	XP_011514415.1:p.His383Tyr
XM_011516114.1:c.976C>T	XP_011514416.1:p.His326Tyr
XR_927461.1:n.1734C>T
XM_005250297.4:c.1495C>T	XP_005250354.1:p.His499Tyr
XM_011516114.2:c.976C>T	XP_011514416.1:p.His326Tyr
XM_017012091.1:c.994C>T	XP_016867580.1:p.His332Tyr
XM_017012092.1:c.925C>T	XP_016867581.1:p.His309Tyr
XM_017012093.2:c.823C>T	XP_016867582.1:p.His275Tyr
XR_001744658.2:n.1455C>T
XR_001744659.2:n.1568C>T
XR_001744660.2:n.1500C>T
XR_001744661.2:n.1415C>T
XR_927461.3:n.1653C>T
NM_000181.4:c.1648C>T MANE Select	NP_000172.2:p.His550Tyr
NM_001284290.2:c.1210C>T	NP_001271219.1:p.His404Tyr
NM_001293104.2:c.1078C>T	NP_001280033.1:p.His360Tyr
NM_001293105.2:c.991C>T	NP_001280034.1:p.His331Tyr
NR_120531.2:n.1593C>T