Canonical Allele Identifier: CA367640491

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432873A>T (hg19) ; chr7:g.65967886A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967886A>T , CM000669.2:g.65967886A>T	GRCh38
NC_000007.13:g.65432873A>T , CM000669.1:g.65432873A>T	GRCh37
NC_000007.12:g.65070308A>T	NCBI36
NG_016197.1:g.19429T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1498T>A MANE Select	ENSP00000302728.4:p.Cys500Ser
ENST00000304895.8:c.1498T>A	ENSP00000302728.4:p.Cys500Ser
ENST00000421103.5:c.1060T>A	ENSP00000391390.1:p.Cys354Ser
ENST00000430730.5:c.*765T>A	ENSP00000411859.1:n.*765T>A
ENST00000447929.5:c.*878T>A	ENSP00000411262.1:n.*878T>A
ENST00000461622.1:n.23T>A
ENST00000462371.1:n.536T>A
ENST00000466883.5:n.1888T>A
NM_000181.3:c.1498T>A	NP_000172.2:p.Cys500Ser
NM_001284290.1:c.1060T>A	NP_001271219.1:p.Cys354Ser
NM_001293104.1:c.928T>A	NP_001280033.1:p.Cys310Ser
NM_001293105.1:c.841T>A	NP_001280034.1:p.Cys281Ser
NR_120531.1:n.1544T>A
XM_005250297.3:c.1345T>A	XP_005250354.1:p.Cys449Ser
XM_011516113.1:c.997T>A	XP_011514415.1:p.Cys333Ser
XM_011516114.1:c.826T>A	XP_011514416.1:p.Cys276Ser
XR_927461.1:n.1584T>A
XM_005250297.4:c.1345T>A	XP_005250354.1:p.Cys449Ser
XM_011516114.2:c.826T>A	XP_011514416.1:p.Cys276Ser
XM_017012091.1:c.844T>A	XP_016867580.1:p.Cys282Ser
XM_017012092.1:c.775T>A	XP_016867581.1:p.Cys259Ser
XM_017012093.2:c.673T>A	XP_016867582.1:p.Cys225Ser
XR_001744658.2:n.1305T>A
XR_001744659.2:n.1418T>A
XR_001744660.2:n.1350T>A
XR_001744661.2:n.1265T>A
XR_927461.3:n.1503T>A
NM_000181.4:c.1498T>A MANE Select	NP_000172.2:p.Cys500Ser
NM_001284290.2:c.1060T>A	NP_001271219.1:p.Cys354Ser
NM_001293104.2:c.928T>A	NP_001280033.1:p.Cys310Ser
NM_001293105.2:c.841T>A	NP_001280034.1:p.Cys281Ser
NR_120531.2:n.1443T>A