Canonical Allele Identifier: CA174080

Gene: GUSB

Linked Data

• ClinVar Variation Id: 161461
• ClinVar RCV Id: RCV000148995
• dbSNP Id: rs193920810
• COSMIC: COSM1179360
• MyVariant Identifiers: chr7:g.65439420A>C (hg19) ; chr7:g.65974433A>C (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974433A>C , CM000669.2:g.65974433A>C	GRCh38
NC_000007.13:g.65439420A>C , CM000669.1:g.65439420A>C	GRCh37
NC_000007.12:g.65076855A>C	NCBI36
NG_016197.1:g.12882T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1253T>G MANE Select	ENSP00000302728.4:p.Phe418Cys
ENST00000304895.8:c.1253T>G	ENSP00000302728.4:p.Phe418Cys
ENST00000421103.5:c.815T>G	ENSP00000391390.1:p.Phe272Cys
ENST00000430730.5:c.*520T>G	ENSP00000411859.1:n.*520T>G
ENST00000447929.5:c.*633T>G	ENSP00000411262.1:n.*633T>G
ENST00000462371.1:n.323-32T>G
ENST00000465785.5:n.486T>G
ENST00000466883.5:n.1728T>G
ENST00000479038.1:n.376T>G
ENST00000489482.1:n.490T>G
NM_000181.3:c.1253T>G	NP_000172.2:p.Phe418Cys
NM_001284290.1:c.815T>G	NP_001271219.1:p.Phe272Cys
NM_001293104.1:c.683T>G	NP_001280033.1:p.Phe228Cys
NM_001293105.1:c.596T>G	NP_001280034.1:p.Phe199Cys
NR_120531.1:n.1384T>G
XM_005250297.3:c.1100T>G	XP_005250354.1:p.Phe367Cys
XM_011516113.1:c.752T>G	XP_011514415.1:p.Phe251Cys
XM_011516114.1:c.581T>G	XP_011514416.1:p.Phe194Cys
XR_927461.1:n.1371-32T>G
XM_005250297.4:c.1100T>G	XP_005250354.1:p.Phe367Cys
XM_011516114.2:c.581T>G	XP_011514416.1:p.Phe194Cys
XM_017012091.1:c.599T>G	XP_016867580.1:p.Phe200Cys
XM_017012092.1:c.530T>G	XP_016867581.1:p.Phe177Cys
XM_017012093.2:c.428T>G	XP_016867582.1:p.Phe143Cys
XR_001744658.2:n.1145T>G
XR_001744659.2:n.1290-32T>G
XR_001744660.2:n.1137-32T>G
XR_001744661.2:n.1137-32T>G
XR_927461.3:n.1290-32T>G
NM_000181.4:c.1253T>G MANE Select	NP_000172.2:p.Phe418Cys
NM_001284290.2:c.815T>G	NP_001271219.1:p.Phe272Cys
NM_001293104.2:c.683T>G	NP_001280033.1:p.Phe228Cys
NM_001293105.2:c.596T>G	NP_001280034.1:p.Phe199Cys
NR_120531.2:n.1283T>G