Canonical Allele Identifier: CA651511120

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2776472
• ClinVar RCV Id: RCV003600483
• dbSNP Id: rs1790927145
• gnomAD v4: 7-65967716-C-T
• COSMIC: COSN26559080 ; COSN26580186

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967716C>T , CM000669.2:g.65967716C>T	GRCh38
NC_000007.13:g.65432703C>T , CM000669.1:g.65432703C>T	GRCh37
NC_000007.12:g.65070138C>T	NCBI36
NG_016197.1:g.19599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1653+15G>A MANE Select	ENSP00000302728.4:n.1653+15G>A
ENST00000304895.8:c.1653+15G>A	ENSP00000302728.4:n.1653+15G>A
ENST00000421103.5:c.1215+15G>A	ENSP00000391390.1:n.1215+15G>A
ENST00000430730.5:c.*920+15G>A	ENSP00000411859.1:n.*920+15G>A
ENST00000447929.5:c.*1033+15G>A	ENSP00000411262.1:n.*1033+15G>A
ENST00000461622.1:n.178+15G>A
ENST00000462371.1:n.691+15G>A
ENST00000466883.5:n.2043+15G>A
NM_000181.3:c.1653+15G>A	NP_000172.2:n.1653+15G>A
NM_001284290.1:c.1215+15G>A	NP_001271219.1:n.1215+15G>A
NM_001293104.1:c.1083+15G>A	NP_001280033.1:n.1083+15G>A
NM_001293105.1:c.996+15G>A	NP_001280034.1:n.996+15G>A
NR_120531.1:n.1699+15G>A
XM_005250297.3:c.1500+15G>A	XP_005250354.1:n.1500+15G>A
XM_011516113.1:c.1152+15G>A	XP_011514415.1:n.1152+15G>A
XM_011516114.1:c.981+15G>A	XP_011514416.1:n.981+15G>A
XR_927461.1:n.1739+15G>A
XM_005250297.4:c.1500+15G>A	XP_005250354.1:n.1500+15G>A
XM_011516114.2:c.981+15G>A	XP_011514416.1:n.981+15G>A
XM_017012091.1:c.999+15G>A	XP_016867580.1:n.999+15G>A
XM_017012092.1:c.930+15G>A	XP_016867581.1:n.930+15G>A
XM_017012093.2:c.828+15G>A	XP_016867582.1:n.828+15G>A
XR_001744658.2:n.1460+15G>A
XR_001744659.2:n.1573+15G>A
XR_001744660.2:n.1505+15G>A
XR_001744661.2:n.1420+15G>A
XR_927461.3:n.1658+15G>A
NM_000181.4:c.1653+15G>A MANE Select	NP_000172.2:n.1653+15G>A
NM_001284290.2:c.1215+15G>A	NP_001271219.1:n.1215+15G>A
NM_001293104.2:c.1083+15G>A	NP_001280033.1:n.1083+15G>A
NM_001293105.2:c.996+15G>A	NP_001280034.1:n.996+15G>A
NR_120531.2:n.1598+15G>A