Canonical Allele Identifier: CA4276159

Gene: GUSB

Linked Data

• ClinVar Variation Id: 1493261
• ClinVar RCV Id: RCV001984237 ; RCV003264376
• dbSNP Id: rs765983374
• ExAC: 7:65426044 G / A
• gnomAD v2: 7-65426044-G-A
• gnomAD v3: 7-65961057-G-A
• gnomAD v4: 7-65961057-G-A
• COSMIC: COSM747297
• MyVariant Identifiers: chr7:g.65426044G>A (hg19) ; chr7:g.65961057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961057G>A , CM000669.2:g.65961057G>A	GRCh38
NC_000007.13:g.65426044G>A , CM000669.1:g.65426044G>A	GRCh37
NC_000007.12:g.65063479G>A	NCBI36
NG_016197.1:g.26258C>T
NG_051954.1:g.92959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1796C>T MANE Select	ENSP00000302728.4:p.Thr599Met
ENST00000304895.8:c.1796C>T	ENSP00000302728.4:p.Thr599Met
ENST00000421103.5:c.1358C>T	ENSP00000391390.1:p.Thr453Met
ENST00000430730.5:c.*1063C>T	ENSP00000411859.1:n.*1063C>T
ENST00000447929.5:c.*1176C>T	ENSP00000411262.1:n.*1176C>T
ENST00000466883.5:n.2186C>T
NM_000181.3:c.1796C>T	NP_000172.2:p.Thr599Met
NM_001284290.1:c.1358C>T	NP_001271219.1:p.Thr453Met
NM_001293104.1:c.1226C>T	NP_001280033.1:p.Thr409Met
NM_001293105.1:c.1139C>T	NP_001280034.1:p.Thr380Met
NR_120531.1:n.1842C>T
XM_005250297.3:c.1643C>T	XP_005250354.1:p.Thr548Met
XM_011516113.1:c.1295C>T	XP_011514415.1:p.Thr432Met
XM_011516114.1:c.1124C>T	XP_011514416.1:p.Thr375Met
XM_005250297.4:c.1643C>T	XP_005250354.1:p.Thr548Met
XM_011516114.2:c.1124C>T	XP_011514416.1:p.Thr375Met
XM_017012091.1:c.1142C>T	XP_016867580.1:p.Thr381Met
XM_017012092.1:c.1073C>T	XP_016867581.1:p.Thr358Met
XM_017012093.2:c.971C>T	XP_016867582.1:p.Thr324Met
XR_001744658.2:n.1603C>T
XR_001744659.2:n.1716C>T
XR_001744660.2:n.1648C>T
XR_001744661.2:n.1563C>T
XR_927461.3:n.1801C>T
NM_000181.4:c.1796C>T MANE Select	NP_000172.2:p.Thr599Met
NM_001284290.2:c.1358C>T	NP_001271219.1:p.Thr453Met
NM_001293104.2:c.1226C>T	NP_001280033.1:p.Thr409Met
NM_001293105.2:c.1139C>T	NP_001280034.1:p.Thr380Met
NR_120531.2:n.1741C>T