Canonical Allele Identifier: CA367641771

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65970346T>G , CM000669.2:g.65970346T>G	GRCh38
NC_000007.13:g.65435333T>G , CM000669.1:g.65435333T>G	GRCh37
NC_000007.12:g.65072768T>G	NCBI36
NG_016197.1:g.16969A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.1412A>C MANE Select	NP_000172.2:p.Lys471Thr
ENST00000304895.9:c.1412A>C MANE Select	ENSP00000302728.4:p.Lys471Thr
NM_000181.3:c.1412A>C	NP_000172.2:p.Lys471Thr
NM_001284290.1:c.974A>C	NP_001271219.1:p.Lys325Thr
NM_001284290.2:c.974A>C	NP_001271219.1:p.Lys325Thr
NM_001293104.1:c.842A>C	NP_001280033.1:p.Lys281Thr
NM_001293104.2:c.842A>C	NP_001280033.1:p.Lys281Thr
NM_001293105.1:c.755A>C	NP_001280034.1:p.Lys252Thr
NM_001293105.2:c.755A>C	NP_001280034.1:p.Lys252Thr
NR_120531.1:n.1523-2439A>C
NR_120531.2:n.1422-2439A>C
ENST00000304895.8:c.1412A>C	ENSP00000302728.4:p.Lys471Thr
ENST00000421103.5:c.974A>C	ENSP00000391390.1:p.Lys325Thr
ENST00000430730.5:c.*679A>C	ENSP00000411859.1:n.*679A>C
ENST00000447929.5:c.*792A>C	ENSP00000411262.1:n.*792A>C
ENST00000462371.1:n.450A>C
ENST00000466883.5:n.1867-2439A>C
XM_005250297.3:c.1259A>C	XP_005250354.1:p.Lys420Thr
XM_005250297.4:c.1259A>C	XP_005250354.1:p.Lys420Thr
XM_011516113.1:c.911A>C	XP_011514415.1:p.Lys304Thr
XM_011516114.1:c.740A>C	XP_011514416.1:p.Lys247Thr
XM_011516114.2:c.740A>C	XP_011514416.1:p.Lys247Thr
XM_017012091.1:c.758A>C	XP_016867580.1:p.Lys253Thr
XM_017012092.1:c.689A>C	XP_016867581.1:p.Lys230Thr
XM_017012093.2:c.587A>C	XP_016867582.1:p.Lys196Thr
XR_001744658.2:n.1284-2439A>C
XR_001744659.2:n.1397-2439A>C
XR_001744660.2:n.1264A>C
XR_001744661.2:n.1244-2439A>C
XR_927461.1:n.1498A>C
XR_927461.3:n.1417A>C