Canonical Allele Identifier: CA367640389

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432857T>C (hg19) ; chr7:g.65967870T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967870T>C , CM000669.2:g.65967870T>C	GRCh38
NC_000007.13:g.65432857T>C , CM000669.1:g.65432857T>C	GRCh37
NC_000007.12:g.65070292T>C	NCBI36
NG_016197.1:g.19445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1514A>G MANE Select	ENSP00000302728.4:p.Tyr505Cys
ENST00000304895.8:c.1514A>G	ENSP00000302728.4:p.Tyr505Cys
ENST00000421103.5:c.1076A>G	ENSP00000391390.1:p.Tyr359Cys
ENST00000430730.5:c.*781A>G	ENSP00000411859.1:n.*781A>G
ENST00000447929.5:c.*894A>G	ENSP00000411262.1:n.*894A>G
ENST00000461622.1:n.39A>G
ENST00000462371.1:n.552A>G
ENST00000466883.5:n.1904A>G
NM_000181.3:c.1514A>G	NP_000172.2:p.Tyr505Cys
NM_001284290.1:c.1076A>G	NP_001271219.1:p.Tyr359Cys
NM_001293104.1:c.944A>G	NP_001280033.1:p.Tyr315Cys
NM_001293105.1:c.857A>G	NP_001280034.1:p.Tyr286Cys
NR_120531.1:n.1560A>G
XM_005250297.3:c.1361A>G	XP_005250354.1:p.Tyr454Cys
XM_011516113.1:c.1013A>G	XP_011514415.1:p.Tyr338Cys
XM_011516114.1:c.842A>G	XP_011514416.1:p.Tyr281Cys
XR_927461.1:n.1600A>G
XM_005250297.4:c.1361A>G	XP_005250354.1:p.Tyr454Cys
XM_011516114.2:c.842A>G	XP_011514416.1:p.Tyr281Cys
XM_017012091.1:c.860A>G	XP_016867580.1:p.Tyr287Cys
XM_017012092.1:c.791A>G	XP_016867581.1:p.Tyr264Cys
XM_017012093.2:c.689A>G	XP_016867582.1:p.Tyr230Cys
XR_001744658.2:n.1321A>G
XR_001744659.2:n.1434A>G
XR_001744660.2:n.1366A>G
XR_001744661.2:n.1281A>G
XR_927461.3:n.1519A>G
NM_000181.4:c.1514A>G MANE Select	NP_000172.2:p.Tyr505Cys
NM_001284290.2:c.1076A>G	NP_001271219.1:p.Tyr359Cys
NM_001293104.2:c.944A>G	NP_001280033.1:p.Tyr315Cys
NM_001293105.2:c.857A>G	NP_001280034.1:p.Tyr286Cys
NR_120531.2:n.1459A>G