Canonical Allele Identifier: CA367645796

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65976034G>A , CM000669.2:g.65976034G>A	GRCh38
NC_000007.13:g.65441021G>A , CM000669.1:g.65441021G>A	GRCh37
NC_000007.12:g.65078456G>A	NCBI36
NG_016197.1:g.11281C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.893C>T MANE Select	NP_000172.2:p.Ala298Val
ENST00000304895.9:c.893C>T MANE Select	ENSP00000302728.4:p.Ala298Val
NM_000181.3:c.893C>T	NP_000172.2:p.Ala298Val
NM_001284290.1:c.475-963C>T	NP_001271219.1:n.475-963C>T
NM_001284290.2:c.475-963C>T	NP_001271219.1:n.475-963C>T
NM_001293104.1:c.323C>T	NP_001280033.1:p.Ala108Val
NM_001293104.2:c.323C>T	NP_001280033.1:p.Ala108Val
NM_001293105.1:c.236C>T	NP_001280034.1:p.Ala79Val
NM_001293105.2:c.236C>T	NP_001280034.1:p.Ala79Val
NR_120531.1:n.1024C>T
NR_120531.2:n.923C>T
ENST00000304895.8:c.893C>T	ENSP00000302728.4:p.Ala298Val
ENST00000421103.5:c.475-963C>T	ENSP00000391390.1:n.475-963C>T
ENST00000430730.5:c.*160C>T	ENSP00000411859.1:n.*160C>T
ENST00000446111.1:c.*286C>T	ENSP00000416793.1:n.*286C>T
ENST00000447929.5:c.*273C>T	ENSP00000411262.1:n.*273C>T
ENST00000465785.5:n.279C>T
ENST00000466883.5:n.127C>T
ENST00000475316.5:n.284C>T
ENST00000476486.5:n.697C>T
ENST00000479038.1:n.189-1330C>T
XM_005250297.3:c.893C>T	XP_005250354.1:p.Ala298Val
XM_005250297.4:c.893C>T	XP_005250354.1:p.Ala298Val
XM_011516113.1:c.392C>T	XP_011514415.1:p.Ala131Val
XM_011516114.1:c.221C>T	XP_011514416.1:p.Ala74Val
XM_011516114.2:c.221C>T	XP_011514416.1:p.Ala74Val
XM_017012091.1:c.392C>T	XP_016867580.1:p.Ala131Val
XM_017012092.1:c.323C>T	XP_016867581.1:p.Ala108Val
XM_017012093.2:c.221C>T	XP_016867582.1:p.Ala74Val
XR_001744658.2:n.938C>T
XR_001744659.2:n.938C>T
XR_001744660.2:n.938C>T
XR_001744661.2:n.938C>T
XR_927461.1:n.1019C>T
XR_927461.3:n.938C>T