Canonical Allele Identifier: CA220459

Gene: GUSB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974686C>T , CM000669.2:g.65974686C>T	GRCh38
NC_000007.13:g.65439673C>T , CM000669.1:g.65439673C>T	GRCh37
NC_000007.12:g.65077108C>T	NCBI36
NG_016197.1:g.12629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1084G>A MANE Select	ENSP00000302728.4:p.Asp362Asn
ENST00000304895.8:c.1084G>A	ENSP00000302728.4:p.Asp362Asn
ENST00000421103.5:c.646G>A	ENSP00000391390.1:p.Asp216Asn
ENST00000430730.5:c.*351G>A	ENSP00000411859.1:n.*351G>A
ENST00000447929.5:c.*464G>A	ENSP00000411262.1:n.*464G>A
ENST00000462371.1:n.162G>A
ENST00000465785.5:n.317G>A
ENST00000466883.5:n.1475G>A
ENST00000475316.5:n.322G>A
ENST00000479038.1:n.207G>A
ENST00000489482.1:n.321G>A
NM_000181.3:c.1084G>A	NP_000172.2:p.Asp362Asn
NM_001284290.1:c.646G>A	NP_001271219.1:p.Asp216Asn
NM_001293104.1:c.514G>A	NP_001280033.1:p.Asp172Asn
NM_001293105.1:c.427G>A	NP_001280034.1:p.Asp143Asn
NR_120531.1:n.1215G>A
XM_005250297.3:c.931G>A	XP_005250354.1:p.Asp311Asn
XM_011516113.1:c.583G>A	XP_011514415.1:p.Asp195Asn
XM_011516114.1:c.412G>A	XP_011514416.1:p.Asp138Asn
XR_927461.1:n.1210G>A
XM_005250297.4:c.931G>A	XP_005250354.1:p.Asp311Asn
XM_011516114.2:c.412G>A	XP_011514416.1:p.Asp138Asn
XM_017012091.1:c.430G>A	XP_016867580.1:p.Asp144Asn
XM_017012092.1:c.361G>A	XP_016867581.1:p.Asp121Asn
XM_017012093.2:c.259G>A	XP_016867582.1:p.Asp87Asn
XR_001744658.2:n.976G>A
XR_001744659.2:n.1129G>A
XR_001744660.2:n.976G>A
XR_001744661.2:n.976G>A
XR_927461.3:n.1129G>A
NM_000181.4:c.1084G>A MANE Select	NP_000172.2:p.Asp362Asn
NM_001284290.2:c.646G>A	NP_001271219.1:p.Asp216Asn
NM_001293104.2:c.514G>A	NP_001280033.1:p.Asp172Asn
NM_001293105.2:c.427G>A	NP_001280034.1:p.Asp143Asn
NR_120531.2:n.1114G>A