Canonical Allele Identifier: CA367636925

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425888G>A (hg19) ; chr7:g.65960901G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960901G>A , CM000669.2:g.65960901G>A	GRCh38
NC_000007.13:g.65425888G>A , CM000669.1:g.65425888G>A	GRCh37
NC_000007.12:g.65063323G>A	NCBI36
NG_016197.1:g.26414C>T
NG_051954.1:g.92803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1952C>T MANE Select	ENSP00000302728.4:p.Thr651Ile
ENST00000304895.8:c.1952C>T	ENSP00000302728.4:p.Thr651Ile
ENST00000421103.5:c.1514C>T	ENSP00000391390.1:p.Thr505Ile
ENST00000430730.5:c.*1219C>T	ENSP00000411859.1:n.*1219C>T
ENST00000447929.5:c.*1332C>T	ENSP00000411262.1:n.*1332C>T
ENST00000466883.5:n.2342C>T
NM_000181.3:c.1952C>T	NP_000172.2:p.Thr651Ile
NM_001284290.1:c.1514C>T	NP_001271219.1:p.Thr505Ile
NM_001293104.1:c.1382C>T	NP_001280033.1:p.Thr461Ile
NM_001293105.1:c.1295C>T	NP_001280034.1:p.Thr432Ile
NR_120531.1:n.1998C>T
XM_005250297.3:c.1799C>T	XP_005250354.1:p.Thr600Ile
XM_011516113.1:c.1451C>T	XP_011514415.1:p.Thr484Ile
XM_011516114.1:c.1280C>T	XP_011514416.1:p.Thr427Ile
XM_005250297.4:c.1799C>T	XP_005250354.1:p.Thr600Ile
XM_011516114.2:c.1280C>T	XP_011514416.1:p.Thr427Ile
XM_017012091.1:c.1298C>T	XP_016867580.1:p.Thr433Ile
XM_017012092.1:c.1229C>T	XP_016867581.1:p.Thr410Ile
XM_017012093.2:c.1127C>T	XP_016867582.1:p.Thr376Ile
XR_001744658.2:n.1759C>T
XR_001744659.2:n.1872C>T
XR_001744660.2:n.1804C>T
XR_001744661.2:n.1719C>T
XR_927461.3:n.1957C>T
NM_000181.4:c.1952C>T MANE Select	NP_000172.2:p.Thr651Ile
NM_001284290.2:c.1514C>T	NP_001271219.1:p.Thr505Ile
NM_001293104.2:c.1382C>T	NP_001280033.1:p.Thr461Ile
NM_001293105.2:c.1295C>T	NP_001280034.1:p.Thr432Ile
NR_120531.2:n.1897C>T