Canonical Allele Identifier: CA339849

Gene: GUSB

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65964382C>A , CM000669.2:g.65964382C>A	GRCh38
NC_000007.13:g.65429369C>A , CM000669.1:g.65429369C>A	GRCh37
NC_000007.12:g.65066804C>A	NCBI36
NG_016197.1:g.22933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1730G>T MANE Select	ENSP00000302728.4:p.Arg577Leu
ENST00000304895.8:c.1730G>T	ENSP00000302728.4:p.Arg577Leu
ENST00000421103.5:c.1292G>T	ENSP00000391390.1:p.Arg431Leu
ENST00000430730.5:c.*997G>T	ENSP00000411859.1:n.*997G>T
ENST00000447929.5:c.*1110G>T	ENSP00000411262.1:n.*1110G>T
ENST00000461622.1:n.255G>T
ENST00000462371.1:n.768G>T
ENST00000466883.5:n.2120G>T
NM_000181.3:c.1730G>T	NP_000172.2:p.Arg577Leu
NM_001284290.1:c.1292G>T	NP_001271219.1:p.Arg431Leu
NM_001293104.1:c.1160G>T	NP_001280033.1:p.Arg387Leu
NM_001293105.1:c.1073G>T	NP_001280034.1:p.Arg358Leu
NR_120531.1:n.1776G>T
XM_005250297.3:c.1577G>T	XP_005250354.1:p.Arg526Leu
XM_011516113.1:c.1229G>T	XP_011514415.1:p.Arg410Leu
XM_011516114.1:c.1058G>T	XP_011514416.1:p.Arg353Leu
XR_927461.1:n.1816G>T
XM_005250297.4:c.1577G>T	XP_005250354.1:p.Arg526Leu
XM_011516114.2:c.1058G>T	XP_011514416.1:p.Arg353Leu
XM_017012091.1:c.1076G>T	XP_016867580.1:p.Arg359Leu
XM_017012092.1:c.1007G>T	XP_016867581.1:p.Arg336Leu
XM_017012093.2:c.905G>T	XP_016867582.1:p.Arg302Leu
XR_001744658.2:n.1537G>T
XR_001744659.2:n.1650G>T
XR_001744660.2:n.1582G>T
XR_001744661.2:n.1497G>T
XR_927461.3:n.1735G>T
NM_000181.4:c.1730G>T MANE Select	NP_000172.2:p.Arg577Leu
NM_001284290.2:c.1292G>T	NP_001271219.1:p.Arg431Leu
NM_001293104.2:c.1160G>T	NP_001280033.1:p.Arg387Leu
NM_001293105.2:c.1073G>T	NP_001280034.1:p.Arg358Leu
NR_120531.2:n.1675G>T