Canonical Allele Identifier: CA2683077292

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960727-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960727G>T , CM000669.2:g.65960727G>T	GRCh38
NC_000007.13:g.65425714G>T , CM000669.1:g.65425714G>T	GRCh37
NC_000007.12:g.65063149G>T	NCBI36
NG_016197.1:g.26588C>A
NG_051954.1:g.92629G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*170C>A MANE Select	ENSP00000302728.4:n.*170C>A
ENST00000304895.8:c.*170C>A	ENSP00000302728.4:n.*170C>A
ENST00000421103.5:c.*170C>A	ENSP00000391390.1:n.*170C>A
ENST00000430730.5:c.*1393C>A	ENSP00000411859.1:n.*1393C>A
ENST00000447929.5:c.*1506C>A	ENSP00000411262.1:n.*1506C>A
ENST00000466883.5:n.2516C>A
NM_000181.3:c.*170C>A	NP_000172.2:n.*170C>A
NM_001284290.1:c.*170C>A	NP_001271219.1:n.*170C>A
NM_001293104.1:c.*170C>A	NP_001280033.1:n.*170C>A
NM_001293105.1:c.*170C>A	NP_001280034.1:n.*170C>A
NR_120531.1:n.2172C>A
XM_005250297.3:c.*170C>A	XP_005250354.1:n.*170C>A
XM_011516113.1:c.*170C>A	XP_011514415.1:n.*170C>A
XM_011516114.1:c.*170C>A	XP_011514416.1:n.*170C>A
XM_005250297.4:c.*170C>A	XP_005250354.1:n.*170C>A
XM_011516114.2:c.*170C>A	XP_011514416.1:n.*170C>A
XM_017012091.1:c.*170C>A	XP_016867580.1:n.*170C>A
XM_017012092.1:c.*170C>A	XP_016867581.1:n.*170C>A
XM_017012093.2:c.*170C>A	XP_016867582.1:n.*170C>A
XR_001744658.2:n.1933C>A
XR_001744659.2:n.2046C>A
XR_001744660.2:n.1978C>A
XR_001744661.2:n.1893C>A
XR_927461.3:n.2131C>A
NM_000181.4:c.*170C>A MANE Select	NP_000172.2:n.*170C>A
NM_001284290.2:c.*170C>A	NP_001271219.1:n.*170C>A
NM_001293104.2:c.*170C>A	NP_001280033.1:n.*170C>A
NM_001293105.2:c.*170C>A	NP_001280034.1:n.*170C>A
NR_120531.2:n.2071C>A