Canonical Allele Identifier: CA367649009

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65979398C>G , CM000669.2:g.65979398C>G	GRCh38
NC_000007.13:g.65444385C>G , CM000669.1:g.65444385C>G	GRCh37
NC_000007.12:g.65081820C>G	NCBI36
NG_016197.1:g.7917G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.724+1G>C MANE Select	NP_000172.2:n.724+1G>C
ENST00000304895.9:c.724+1G>C MANE Select	ENSP00000302728.4:n.724+1G>C
NM_000181.3:c.724+1G>C	NP_000172.2:n.724+1G>C
NM_001284290.1:c.474+436G>C	NP_001271219.1:n.474+436G>C
NM_001284290.2:c.474+436G>C	NP_001271219.1:n.474+436G>C
NM_001293104.1:c.154+1G>C	NP_001280033.1:n.154+1G>C
NM_001293104.2:c.154+1G>C	NP_001280033.1:n.154+1G>C
NM_001293105.1:c.67+826G>C	NP_001280034.1:n.67+826G>C
NM_001293105.2:c.67+826G>C	NP_001280034.1:n.67+826G>C
NR_120531.1:n.855+1G>C
NR_120531.2:n.754+1G>C
ENST00000304895.8:c.724+1G>C	ENSP00000302728.4:n.724+1G>C
ENST00000421103.5:c.474+436G>C	ENSP00000391390.1:n.474+436G>C
ENST00000430730.5:c.396+826G>C	ENSP00000411859.1:n.396+826G>C
ENST00000446111.1:c.*105G>C	ENSP00000416793.1:n.*105G>C
ENST00000447929.5:c.*104+1G>C	ENSP00000411262.1:n.*104+1G>C
ENST00000465785.5:n.110+1G>C
ENST00000475316.5:n.115+2576G>C
ENST00000476486.5:n.528+1G>C
ENST00000479038.1:n.188+826G>C
XM_005250297.3:c.724+1G>C	XP_005250354.1:n.724+1G>C
XM_005250297.4:c.724+1G>C	XP_005250354.1:n.724+1G>C
XM_011516113.1:c.211G>C	XP_011514415.1:p.Val71Leu
XM_011516114.1:c.40G>C	XP_011514416.1:p.Val14Leu
XM_011516114.2:c.40G>C	XP_011514416.1:p.Val14Leu
XM_017012091.1:c.211G>C	XP_016867580.1:p.Val71Leu
XM_017012092.1:c.154+1G>C	XP_016867581.1:n.154+1G>C
XM_017012093.2:c.40G>C	XP_016867582.1:p.Val14Leu
XR_001744658.2:n.769+1G>C
XR_001744659.2:n.769+1G>C
XR_001744660.2:n.769+1G>C
XR_001744661.2:n.769+1G>C
XR_927461.1:n.850+1G>C
XR_927461.3:n.769+1G>C