Canonical Allele Identifier: CA345453

Gene: GUSB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65979778G>A , CM000669.2:g.65979778G>A	GRCh38
NC_000007.13:g.65444765G>A , CM000669.1:g.65444765G>A	GRCh37
NC_000007.12:g.65082200G>A	NCBI36
NG_016197.1:g.7537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.530C>T MANE Select	ENSP00000302728.4:p.Thr177Ile
ENST00000304895.8:c.530C>T	ENSP00000302728.4:p.Thr177Ile
ENST00000421103.5:c.474+56C>T	ENSP00000391390.1:n.474+56C>T
ENST00000430730.5:c.396+446C>T	ENSP00000411859.1:n.396+446C>T
ENST00000446111.1:c.397-237C>T	ENSP00000416793.1:n.397-237C>T
ENST00000447929.5:c.397-237C>T	ENSP00000411262.1:n.397-237C>T
ENST00000475316.5:n.115+2196C>T
ENST00000476486.5:n.385+56C>T
ENST00000478118.1:n.456C>T
ENST00000479038.1:n.188+446C>T
NM_000181.3:c.530C>T	NP_000172.2:p.Thr177Ile
NM_001284290.1:c.474+56C>T	NP_001271219.1:n.474+56C>T
NM_001293104.1:c.12-237C>T	NP_001280033.1:n.12-237C>T
NM_001293105.1:c.67+446C>T	NP_001280034.1:n.67+446C>T
NR_120531.1:n.661C>T
XM_005250297.3:c.530C>T	XP_005250354.1:p.Thr177Ile
XM_011516113.1:c.68-237C>T	XP_011514415.1:n.68-237C>T
XM_011516114.1:c.-156C>T	XP_011514416.1:n.-156C>T
XR_927461.1:n.656C>T
XM_005250297.4:c.530C>T	XP_005250354.1:p.Thr177Ile
XM_011516114.2:c.-156C>T	XP_011514416.1:n.-156C>T
XM_017012091.1:c.68-237C>T	XP_016867580.1:n.68-237C>T
XM_017012092.1:c.12-237C>T	XP_016867581.1:n.12-237C>T
XM_017012093.2:c.-156C>T	XP_016867582.1:n.-156C>T
XR_001744658.2:n.575C>T
XR_001744659.2:n.575C>T
XR_001744660.2:n.575C>T
XR_001744661.2:n.575C>T
XR_927461.3:n.575C>T
NM_000181.4:c.530C>T MANE Select	NP_000172.2:p.Thr177Ile
NM_001284290.2:c.474+56C>T	NP_001271219.1:n.474+56C>T
NM_001293104.2:c.12-237C>T	NP_001280033.1:n.12-237C>T
NM_001293105.2:c.67+446C>T	NP_001280034.1:n.67+446C>T
NR_120531.2:n.560C>T