Canonical Allele Identifier: CA367639963

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432775A>T (hg19) ; chr7:g.65967788A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967788A>T , CM000669.2:g.65967788A>T	GRCh38
NC_000007.13:g.65432775A>T , CM000669.1:g.65432775A>T	GRCh37
NC_000007.12:g.65070210A>T	NCBI36
NG_016197.1:g.19527T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1596T>A MANE Select	ENSP00000302728.4:p.Tyr532Ter
ENST00000304895.8:c.1596T>A	ENSP00000302728.4:p.Tyr532Ter
ENST00000421103.5:c.1158T>A	ENSP00000391390.1:p.Tyr386Ter
ENST00000430730.5:c.*863T>A	ENSP00000411859.1:n.*863T>A
ENST00000447929.5:c.*976T>A	ENSP00000411262.1:n.*976T>A
ENST00000461622.1:n.121T>A
ENST00000462371.1:n.634T>A
ENST00000466883.5:n.1986T>A
NM_000181.3:c.1596T>A	NP_000172.2:p.Tyr532Ter
NM_001284290.1:c.1158T>A	NP_001271219.1:p.Tyr386Ter
NM_001293104.1:c.1026T>A	NP_001280033.1:p.Tyr342Ter
NM_001293105.1:c.939T>A	NP_001280034.1:p.Tyr313Ter
NR_120531.1:n.1642T>A
XM_005250297.3:c.1443T>A	XP_005250354.1:p.Tyr481Ter
XM_011516113.1:c.1095T>A	XP_011514415.1:p.Tyr365Ter
XM_011516114.1:c.924T>A	XP_011514416.1:p.Tyr308Ter
XR_927461.1:n.1682T>A
XM_005250297.4:c.1443T>A	XP_005250354.1:p.Tyr481Ter
XM_011516114.2:c.924T>A	XP_011514416.1:p.Tyr308Ter
XM_017012091.1:c.942T>A	XP_016867580.1:p.Tyr314Ter
XM_017012092.1:c.873T>A	XP_016867581.1:p.Tyr291Ter
XM_017012093.2:c.771T>A	XP_016867582.1:p.Tyr257Ter
XR_001744658.2:n.1403T>A
XR_001744659.2:n.1516T>A
XR_001744660.2:n.1448T>A
XR_001744661.2:n.1363T>A
XR_927461.3:n.1601T>A
NM_000181.4:c.1596T>A MANE Select	NP_000172.2:p.Tyr532Ter
NM_001284290.2:c.1158T>A	NP_001271219.1:p.Tyr386Ter
NM_001293104.2:c.1026T>A	NP_001280033.1:p.Tyr342Ter
NM_001293105.2:c.939T>A	NP_001280034.1:p.Tyr313Ter
NR_120531.2:n.1541T>A