Canonical Allele Identifier: CA367637362

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425987G>A (hg19) ; chr7:g.65961000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961000G>A , CM000669.2:g.65961000G>A	GRCh38
NC_000007.13:g.65425987G>A , CM000669.1:g.65425987G>A	GRCh37
NC_000007.12:g.65063422G>A	NCBI36
NG_016197.1:g.26315C>T
NG_051954.1:g.92902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1853C>T MANE Select	ENSP00000302728.4:p.Ala618Val
ENST00000304895.8:c.1853C>T	ENSP00000302728.4:p.Ala618Val
ENST00000421103.5:c.1415C>T	ENSP00000391390.1:p.Ala472Val
ENST00000430730.5:c.*1120C>T	ENSP00000411859.1:n.*1120C>T
ENST00000447929.5:c.*1233C>T	ENSP00000411262.1:n.*1233C>T
ENST00000466883.5:n.2243C>T
NM_000181.3:c.1853C>T	NP_000172.2:p.Ala618Val
NM_001284290.1:c.1415C>T	NP_001271219.1:p.Ala472Val
NM_001293104.1:c.1283C>T	NP_001280033.1:p.Ala428Val
NM_001293105.1:c.1196C>T	NP_001280034.1:p.Ala399Val
NR_120531.1:n.1899C>T
XM_005250297.3:c.1700C>T	XP_005250354.1:p.Ala567Val
XM_011516113.1:c.1352C>T	XP_011514415.1:p.Ala451Val
XM_011516114.1:c.1181C>T	XP_011514416.1:p.Ala394Val
XM_005250297.4:c.1700C>T	XP_005250354.1:p.Ala567Val
XM_011516114.2:c.1181C>T	XP_011514416.1:p.Ala394Val
XM_017012091.1:c.1199C>T	XP_016867580.1:p.Ala400Val
XM_017012092.1:c.1130C>T	XP_016867581.1:p.Ala377Val
XM_017012093.2:c.1028C>T	XP_016867582.1:p.Ala343Val
XR_001744658.2:n.1660C>T
XR_001744659.2:n.1773C>T
XR_001744660.2:n.1705C>T
XR_001744661.2:n.1620C>T
XR_927461.3:n.1858C>T
NM_000181.4:c.1853C>T MANE Select	NP_000172.2:p.Ala618Val
NM_001284290.2:c.1415C>T	NP_001271219.1:p.Ala472Val
NM_001293104.2:c.1283C>T	NP_001280033.1:p.Ala428Val
NM_001293105.2:c.1196C>T	NP_001280034.1:p.Ala399Val
NR_120531.2:n.1798C>T