Canonical Allele Identifier: CA367637488

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2071051
• ClinVar RCV Id: RCV002971617
• gnomAD v4: 7-65961024-G-A
• MyVariant Identifiers: chr7:g.65426011G>A (hg19) ; chr7:g.65961024G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961024G>A , CM000669.2:g.65961024G>A	GRCh38
NC_000007.13:g.65426011G>A , CM000669.1:g.65426011G>A	GRCh37
NC_000007.12:g.65063446G>A	NCBI36
NG_016197.1:g.26291C>T
NG_051954.1:g.92926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1829C>T MANE Select	ENSP00000302728.4:p.Thr610Ile
ENST00000304895.8:c.1829C>T	ENSP00000302728.4:p.Thr610Ile
ENST00000421103.5:c.1391C>T	ENSP00000391390.1:p.Thr464Ile
ENST00000430730.5:c.*1096C>T	ENSP00000411859.1:n.*1096C>T
ENST00000447929.5:c.*1209C>T	ENSP00000411262.1:n.*1209C>T
ENST00000466883.5:n.2219C>T
NM_000181.3:c.1829C>T	NP_000172.2:p.Thr610Ile
NM_001284290.1:c.1391C>T	NP_001271219.1:p.Thr464Ile
NM_001293104.1:c.1259C>T	NP_001280033.1:p.Thr420Ile
NM_001293105.1:c.1172C>T	NP_001280034.1:p.Thr391Ile
NR_120531.1:n.1875C>T
XM_005250297.3:c.1676C>T	XP_005250354.1:p.Thr559Ile
XM_011516113.1:c.1328C>T	XP_011514415.1:p.Thr443Ile
XM_011516114.1:c.1157C>T	XP_011514416.1:p.Thr386Ile
XM_005250297.4:c.1676C>T	XP_005250354.1:p.Thr559Ile
XM_011516114.2:c.1157C>T	XP_011514416.1:p.Thr386Ile
XM_017012091.1:c.1175C>T	XP_016867580.1:p.Thr392Ile
XM_017012092.1:c.1106C>T	XP_016867581.1:p.Thr369Ile
XM_017012093.2:c.1004C>T	XP_016867582.1:p.Thr335Ile
XR_001744658.2:n.1636C>T
XR_001744659.2:n.1749C>T
XR_001744660.2:n.1681C>T
XR_001744661.2:n.1596C>T
XR_927461.3:n.1834C>T
NM_000181.4:c.1829C>T MANE Select	NP_000172.2:p.Thr610Ile
NM_001284290.2:c.1391C>T	NP_001271219.1:p.Thr464Ile
NM_001293104.2:c.1259C>T	NP_001280033.1:p.Thr420Ile
NM_001293105.2:c.1172C>T	NP_001280034.1:p.Thr391Ile
NR_120531.2:n.1774C>T