Canonical Allele Identifier: CA367636950

Gene: GUSB

Linked Data

• dbSNP Id: rs9530
• gnomAD v4: 7-65960907-A-T
• MyVariant Identifiers: chr7:g.65425894A>T (hg19) ; chr7:g.65960907A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960907A>T , CM000669.2:g.65960907A>T	GRCh38
NC_000007.13:g.65425894A>T , CM000669.1:g.65425894A>T	GRCh37
NC_000007.12:g.65063329A>T	NCBI36
NG_016197.1:g.26408T>A
NG_051954.1:g.92809A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1946T>A MANE Select	ENSP00000302728.4:p.Leu649Gln
ENST00000304895.8:c.1946T>A	ENSP00000302728.4:p.Leu649Gln
ENST00000421103.5:c.1508T>A	ENSP00000391390.1:p.Leu503Gln
ENST00000430730.5:c.*1213T>A	ENSP00000411859.1:n.*1213T>A
ENST00000447929.5:c.*1326T>A	ENSP00000411262.1:n.*1326T>A
ENST00000466883.5:n.2336T>A
NM_000181.3:c.1946T>A	NP_000172.2:p.Leu649Gln
NM_001284290.1:c.1508T>A	NP_001271219.1:p.Leu503Gln
NM_001293104.1:c.1376T>A	NP_001280033.1:p.Leu459Gln
NM_001293105.1:c.1289T>A	NP_001280034.1:p.Leu430Gln
NR_120531.1:n.1992T>A
XM_005250297.3:c.1793T>A	XP_005250354.1:p.Leu598Gln
XM_011516113.1:c.1445T>A	XP_011514415.1:p.Leu482Gln
XM_011516114.1:c.1274T>A	XP_011514416.1:p.Leu425Gln
XM_005250297.4:c.1793T>A	XP_005250354.1:p.Leu598Gln
XM_011516114.2:c.1274T>A	XP_011514416.1:p.Leu425Gln
XM_017012091.1:c.1292T>A	XP_016867580.1:p.Leu431Gln
XM_017012092.1:c.1223T>A	XP_016867581.1:p.Leu408Gln
XM_017012093.2:c.1121T>A	XP_016867582.1:p.Leu374Gln
XR_001744658.2:n.1753T>A
XR_001744659.2:n.1866T>A
XR_001744660.2:n.1798T>A
XR_001744661.2:n.1713T>A
XR_927461.3:n.1951T>A
NM_000181.4:c.1946T>A MANE Select	NP_000172.2:p.Leu649Gln
NM_001284290.2:c.1508T>A	NP_001271219.1:p.Leu503Gln
NM_001293104.2:c.1376T>A	NP_001280033.1:p.Leu459Gln
NM_001293105.2:c.1289T>A	NP_001280034.1:p.Leu430Gln
NR_120531.2:n.1891T>A