Canonical Allele Identifier: CA2683077853

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961075-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961075A>C , CM000669.2:g.65961075A>C	GRCh38
NC_000007.13:g.65426062A>C , CM000669.1:g.65426062A>C	GRCh37
NC_000007.12:g.65063497A>C	NCBI36
NG_016197.1:g.26240T>G
NG_051954.1:g.92977A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1790-12T>G MANE Select	ENSP00000302728.4:n.1790-12T>G
ENST00000304895.8:c.1790-12T>G	ENSP00000302728.4:n.1790-12T>G
ENST00000421103.5:c.1352-12T>G	ENSP00000391390.1:n.1352-12T>G
ENST00000430730.5:c.*1057-12T>G	ENSP00000411859.1:n.*1057-12T>G
ENST00000447929.5:c.*1170-12T>G	ENSP00000411262.1:n.*1170-12T>G
ENST00000466883.5:n.2180-12T>G
NM_000181.3:c.1790-12T>G	NP_000172.2:n.1790-12T>G
NM_001284290.1:c.1352-12T>G	NP_001271219.1:n.1352-12T>G
NM_001293104.1:c.1220-12T>G	NP_001280033.1:n.1220-12T>G
NM_001293105.1:c.1133-12T>G	NP_001280034.1:n.1133-12T>G
NR_120531.1:n.1836-12T>G
XM_005250297.3:c.1637-12T>G	XP_005250354.1:n.1637-12T>G
XM_011516113.1:c.1289-12T>G	XP_011514415.1:n.1289-12T>G
XM_011516114.1:c.1118-12T>G	XP_011514416.1:n.1118-12T>G
XM_005250297.4:c.1637-12T>G	XP_005250354.1:n.1637-12T>G
XM_011516114.2:c.1118-12T>G	XP_011514416.1:n.1118-12T>G
XM_017012091.1:c.1136-12T>G	XP_016867580.1:n.1136-12T>G
XM_017012092.1:c.1067-12T>G	XP_016867581.1:n.1067-12T>G
XM_017012093.2:c.965-12T>G	XP_016867582.1:n.965-12T>G
XR_001744658.2:n.1597-12T>G
XR_001744659.2:n.1710-12T>G
XR_001744660.2:n.1642-12T>G
XR_001744661.2:n.1557-12T>G
XR_927461.3:n.1795-12T>G
NM_000181.4:c.1790-12T>G MANE Select	NP_000172.2:n.1790-12T>G
NM_001284290.2:c.1352-12T>G	NP_001271219.1:n.1352-12T>G
NM_001293104.2:c.1220-12T>G	NP_001280033.1:n.1220-12T>G
NM_001293105.2:c.1133-12T>G	NP_001280034.1:n.1133-12T>G
NR_120531.2:n.1735-12T>G