Canonical Allele Identifier: CA367640023

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432785T>G (hg19) ; chr7:g.65967798T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967798T>G , CM000669.2:g.65967798T>G	GRCh38
NC_000007.13:g.65432785T>G , CM000669.1:g.65432785T>G	GRCh37
NC_000007.12:g.65070220T>G	NCBI36
NG_016197.1:g.19517A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1586A>C MANE Select	ENSP00000302728.4:p.Tyr529Ser
ENST00000304895.8:c.1586A>C	ENSP00000302728.4:p.Tyr529Ser
ENST00000421103.5:c.1148A>C	ENSP00000391390.1:p.Tyr383Ser
ENST00000430730.5:c.*853A>C	ENSP00000411859.1:n.*853A>C
ENST00000447929.5:c.*966A>C	ENSP00000411262.1:n.*966A>C
ENST00000461622.1:n.111A>C
ENST00000462371.1:n.624A>C
ENST00000466883.5:n.1976A>C
NM_000181.3:c.1586A>C	NP_000172.2:p.Tyr529Ser
NM_001284290.1:c.1148A>C	NP_001271219.1:p.Tyr383Ser
NM_001293104.1:c.1016A>C	NP_001280033.1:p.Tyr339Ser
NM_001293105.1:c.929A>C	NP_001280034.1:p.Tyr310Ser
NR_120531.1:n.1632A>C
XM_005250297.3:c.1433A>C	XP_005250354.1:p.Tyr478Ser
XM_011516113.1:c.1085A>C	XP_011514415.1:p.Tyr362Ser
XM_011516114.1:c.914A>C	XP_011514416.1:p.Tyr305Ser
XR_927461.1:n.1672A>C
XM_005250297.4:c.1433A>C	XP_005250354.1:p.Tyr478Ser
XM_011516114.2:c.914A>C	XP_011514416.1:p.Tyr305Ser
XM_017012091.1:c.932A>C	XP_016867580.1:p.Tyr311Ser
XM_017012092.1:c.863A>C	XP_016867581.1:p.Tyr288Ser
XM_017012093.2:c.761A>C	XP_016867582.1:p.Tyr254Ser
XR_001744658.2:n.1393A>C
XR_001744659.2:n.1506A>C
XR_001744660.2:n.1438A>C
XR_001744661.2:n.1353A>C
XR_927461.3:n.1591A>C
NM_000181.4:c.1586A>C MANE Select	NP_000172.2:p.Tyr529Ser
NM_001284290.2:c.1148A>C	NP_001271219.1:p.Tyr383Ser
NM_001293104.2:c.1016A>C	NP_001280033.1:p.Tyr339Ser
NM_001293105.2:c.929A>C	NP_001280034.1:p.Tyr310Ser
NR_120531.2:n.1531A>C