Canonical Allele Identifier: CA367649474

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65979476C>T , CM000669.2:g.65979476C>T	GRCh38
NC_000007.13:g.65444463C>T , CM000669.1:g.65444463C>T	GRCh37
NC_000007.12:g.65081898C>T	NCBI36
NG_016197.1:g.7839G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.647G>A MANE Select	NP_000172.2:p.Arg216Gln
ENST00000304895.9:c.647G>A MANE Select	ENSP00000302728.4:p.Arg216Gln
NM_000181.3:c.647G>A	NP_000172.2:p.Arg216Gln
NM_001284290.1:c.474+358G>A	NP_001271219.1:n.474+358G>A
NM_001284290.2:c.474+358G>A	NP_001271219.1:n.474+358G>A
NM_001293104.1:c.77G>A	NP_001280033.1:p.Arg26Gln
NM_001293104.2:c.77G>A	NP_001280033.1:p.Arg26Gln
NM_001293105.1:c.67+748G>A	NP_001280034.1:n.67+748G>A
NM_001293105.2:c.67+748G>A	NP_001280034.1:n.67+748G>A
NR_120531.1:n.778G>A
NR_120531.2:n.677G>A
ENST00000304895.8:c.647G>A	ENSP00000302728.4:p.Arg216Gln
ENST00000421103.5:c.474+358G>A	ENSP00000391390.1:n.474+358G>A
ENST00000430730.5:c.396+748G>A	ENSP00000411859.1:n.396+748G>A
ENST00000446111.1:c.*27G>A	ENSP00000416793.1:n.*27G>A
ENST00000447929.5:c.*27G>A	ENSP00000411262.1:n.*27G>A
ENST00000465785.5:n.33G>A
ENST00000475316.5:n.115+2498G>A
ENST00000476486.5:n.451G>A
ENST00000479038.1:n.188+748G>A
XM_005250297.3:c.647G>A	XP_005250354.1:p.Arg216Gln
XM_005250297.4:c.647G>A	XP_005250354.1:p.Arg216Gln
XM_011516113.1:c.133G>A	XP_011514415.1:p.Gly45Ser
XM_011516114.1:c.-39G>A	XP_011514416.1:n.-39G>A
XM_011516114.2:c.-39G>A	XP_011514416.1:n.-39G>A
XM_017012091.1:c.133G>A	XP_016867580.1:p.Gly45Ser
XM_017012092.1:c.77G>A	XP_016867581.1:p.Arg26Gln
XM_017012093.2:c.-39G>A	XP_016867582.1:n.-39G>A
XR_001744658.2:n.692G>A
XR_001744659.2:n.692G>A
XR_001744660.2:n.692G>A
XR_001744661.2:n.692G>A
XR_927461.1:n.773G>A
XR_927461.3:n.692G>A