Canonical Allele Identifier: CA367638722

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65964365C>G , CM000669.2:g.65964365C>G	GRCh38
NC_000007.13:g.65429352C>G , CM000669.1:g.65429352C>G	GRCh37
NC_000007.12:g.65066787C>G	NCBI36
NG_016197.1:g.22950G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.1747G>C MANE Select	NP_000172.2:p.Gly583Arg
ENST00000304895.9:c.1747G>C MANE Select	ENSP00000302728.4:p.Gly583Arg
NM_000181.3:c.1747G>C	NP_000172.2:p.Gly583Arg
NM_001284290.1:c.1309G>C	NP_001271219.1:p.Gly437Arg
NM_001284290.2:c.1309G>C	NP_001271219.1:p.Gly437Arg
NM_001293104.1:c.1177G>C	NP_001280033.1:p.Gly393Arg
NM_001293104.2:c.1177G>C	NP_001280033.1:p.Gly393Arg
NM_001293105.1:c.1090G>C	NP_001280034.1:p.Gly364Arg
NM_001293105.2:c.1090G>C	NP_001280034.1:p.Gly364Arg
NR_120531.1:n.1793G>C
NR_120531.2:n.1692G>C
ENST00000304895.8:c.1747G>C	ENSP00000302728.4:p.Gly583Arg
ENST00000421103.5:c.1309G>C	ENSP00000391390.1:p.Gly437Arg
ENST00000430730.5:c.*1014G>C	ENSP00000411859.1:n.*1014G>C
ENST00000447929.5:c.*1127G>C	ENSP00000411262.1:n.*1127G>C
ENST00000461622.1:n.272G>C
ENST00000462371.1:n.785G>C
ENST00000466883.5:n.2137G>C
XM_005250297.3:c.1594G>C	XP_005250354.1:p.Gly532Arg
XM_005250297.4:c.1594G>C	XP_005250354.1:p.Gly532Arg
XM_011516113.1:c.1246G>C	XP_011514415.1:p.Gly416Arg
XM_011516114.1:c.1075G>C	XP_011514416.1:p.Gly359Arg
XM_011516114.2:c.1075G>C	XP_011514416.1:p.Gly359Arg
XM_017012091.1:c.1093G>C	XP_016867580.1:p.Gly365Arg
XM_017012092.1:c.1024G>C	XP_016867581.1:p.Gly342Arg
XM_017012093.2:c.922G>C	XP_016867582.1:p.Gly308Arg
XR_001744658.2:n.1554G>C
XR_001744659.2:n.1667G>C
XR_001744660.2:n.1599G>C
XR_001744661.2:n.1514G>C
XR_927461.1:n.1833G>C
XR_927461.3:n.1752G>C