Canonical Allele Identifier: CA367637475

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961021C>T , CM000669.2:g.65961021C>T	GRCh38
NC_000007.13:g.65426008C>T , CM000669.1:g.65426008C>T	GRCh37
NC_000007.12:g.65063443C>T	NCBI36
NG_016197.1:g.26294G>A
NG_051954.1:g.92923C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.1832G>A MANE Select	NP_000172.2:p.Arg611Gln
ENST00000304895.9:c.1832G>A MANE Select	ENSP00000302728.4:p.Arg611Gln
NM_000181.3:c.1832G>A	NP_000172.2:p.Arg611Gln
NM_001284290.1:c.1394G>A	NP_001271219.1:p.Arg465Gln
NM_001284290.2:c.1394G>A	NP_001271219.1:p.Arg465Gln
NM_001293104.1:c.1262G>A	NP_001280033.1:p.Arg421Gln
NM_001293104.2:c.1262G>A	NP_001280033.1:p.Arg421Gln
NM_001293105.1:c.1175G>A	NP_001280034.1:p.Arg392Gln
NM_001293105.2:c.1175G>A	NP_001280034.1:p.Arg392Gln
NR_120531.1:n.1878G>A
NR_120531.2:n.1777G>A
ENST00000304895.8:c.1832G>A	ENSP00000302728.4:p.Arg611Gln
ENST00000421103.5:c.1394G>A	ENSP00000391390.1:p.Arg465Gln
ENST00000430730.5:c.*1099G>A	ENSP00000411859.1:n.*1099G>A
ENST00000447929.5:c.*1212G>A	ENSP00000411262.1:n.*1212G>A
ENST00000466883.5:n.2222G>A
XM_005250297.3:c.1679G>A	XP_005250354.1:p.Arg560Gln
XM_005250297.4:c.1679G>A	XP_005250354.1:p.Arg560Gln
XM_011516113.1:c.1331G>A	XP_011514415.1:p.Arg444Gln
XM_011516114.1:c.1160G>A	XP_011514416.1:p.Arg387Gln
XM_011516114.2:c.1160G>A	XP_011514416.1:p.Arg387Gln
XM_017012091.1:c.1178G>A	XP_016867580.1:p.Arg393Gln
XM_017012092.1:c.1109G>A	XP_016867581.1:p.Arg370Gln
XM_017012093.2:c.1007G>A	XP_016867582.1:p.Arg336Gln
XR_001744658.2:n.1639G>A
XR_001744659.2:n.1752G>A
XR_001744660.2:n.1684G>A
XR_001744661.2:n.1599G>A
XR_927461.3:n.1837G>A