Canonical Allele Identifier: CA367645474

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65975068G>A , CM000669.2:g.65975068G>A	GRCh38
NC_000007.13:g.65440055G>A , CM000669.1:g.65440055G>A	GRCh37
NC_000007.12:g.65077490G>A	NCBI36
NG_016197.1:g.12247C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.916C>T MANE Select	NP_000172.2:p.Gln306Ter
ENST00000304895.9:c.916C>T MANE Select	ENSP00000302728.4:p.Gln306Ter
NM_000181.3:c.916C>T	NP_000172.2:p.Gln306Ter
NM_001284290.1:c.478C>T	NP_001271219.1:p.Gln160Ter
NM_001284290.2:c.478C>T	NP_001271219.1:p.Gln160Ter
NM_001293104.1:c.346C>T	NP_001280033.1:p.Gln116Ter
NM_001293104.2:c.346C>T	NP_001280033.1:p.Gln116Ter
NM_001293105.1:c.259C>T	NP_001280034.1:p.Gln87Ter
NM_001293105.2:c.259C>T	NP_001280034.1:p.Gln87Ter
NR_120531.1:n.1047C>T
NR_120531.2:n.946C>T
ENST00000304895.8:c.916C>T	ENSP00000302728.4:p.Gln306Ter
ENST00000421103.5:c.478C>T	ENSP00000391390.1:p.Gln160Ter
ENST00000430730.5:c.*183C>T	ENSP00000411859.1:n.*183C>T
ENST00000447929.5:c.*296C>T	ENSP00000411262.1:n.*296C>T
ENST00000465785.5:n.299-364C>T
ENST00000466883.5:n.1093C>T
ENST00000475316.5:n.304-364C>T
ENST00000476486.5:n.720C>T
ENST00000479038.1:n.189-364C>T
XM_005250297.3:c.913-364C>T	XP_005250354.1:n.913-364C>T
XM_005250297.4:c.913-364C>T	XP_005250354.1:n.913-364C>T
XM_011516113.1:c.415C>T	XP_011514415.1:p.Gln139Ter
XM_011516114.1:c.244C>T	XP_011514416.1:p.Gln82Ter
XM_011516114.2:c.244C>T	XP_011514416.1:p.Gln82Ter
XM_017012091.1:c.412-364C>T	XP_016867580.1:n.412-364C>T
XM_017012092.1:c.343-364C>T	XP_016867581.1:n.343-364C>T
XM_017012093.2:c.241-364C>T	XP_016867582.1:n.241-364C>T
XR_001744658.2:n.958-364C>T
XR_001744659.2:n.961C>T
XR_001744660.2:n.958-364C>T
XR_001744661.2:n.958-364C>T
XR_927461.1:n.1042C>T
XR_927461.3:n.961C>T