Canonical Allele Identifier: CA2578899416

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967719-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967719A>C , CM000669.2:g.65967719A>C	GRCh38
NC_000007.13:g.65432706A>C , CM000669.1:g.65432706A>C	GRCh37
NC_000007.12:g.65070141A>C	NCBI36
NG_016197.1:g.19596T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1653+12T>G MANE Select	ENSP00000302728.4:n.1653+12T>G
ENST00000304895.8:c.1653+12T>G	ENSP00000302728.4:n.1653+12T>G
ENST00000421103.5:c.1215+12T>G	ENSP00000391390.1:n.1215+12T>G
ENST00000430730.5:c.*920+12T>G	ENSP00000411859.1:n.*920+12T>G
ENST00000447929.5:c.*1033+12T>G	ENSP00000411262.1:n.*1033+12T>G
ENST00000461622.1:n.178+12T>G
ENST00000462371.1:n.691+12T>G
ENST00000466883.5:n.2043+12T>G
NM_000181.3:c.1653+12T>G	NP_000172.2:n.1653+12T>G
NM_001284290.1:c.1215+12T>G	NP_001271219.1:n.1215+12T>G
NM_001293104.1:c.1083+12T>G	NP_001280033.1:n.1083+12T>G
NM_001293105.1:c.996+12T>G	NP_001280034.1:n.996+12T>G
NR_120531.1:n.1699+12T>G
XM_005250297.3:c.1500+12T>G	XP_005250354.1:n.1500+12T>G
XM_011516113.1:c.1152+12T>G	XP_011514415.1:n.1152+12T>G
XM_011516114.1:c.981+12T>G	XP_011514416.1:n.981+12T>G
XR_927461.1:n.1739+12T>G
XM_005250297.4:c.1500+12T>G	XP_005250354.1:n.1500+12T>G
XM_011516114.2:c.981+12T>G	XP_011514416.1:n.981+12T>G
XM_017012091.1:c.999+12T>G	XP_016867580.1:n.999+12T>G
XM_017012092.1:c.930+12T>G	XP_016867581.1:n.930+12T>G
XM_017012093.2:c.828+12T>G	XP_016867582.1:n.828+12T>G
XR_001744658.2:n.1460+12T>G
XR_001744659.2:n.1573+12T>G
XR_001744660.2:n.1505+12T>G
XR_001744661.2:n.1420+12T>G
XR_927461.3:n.1658+12T>G
NM_000181.4:c.1653+12T>G MANE Select	NP_000172.2:n.1653+12T>G
NM_001284290.2:c.1215+12T>G	NP_001271219.1:n.1215+12T>G
NM_001293104.2:c.1083+12T>G	NP_001280033.1:n.1083+12T>G
NM_001293105.2:c.996+12T>G	NP_001280034.1:n.996+12T>G
NR_120531.2:n.1598+12T>G