Canonical Allele Identifier: CA367637405

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425993T>A (hg19) ; chr7:g.65961006T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961006T>A , CM000669.2:g.65961006T>A	GRCh38
NC_000007.13:g.65425993T>A , CM000669.1:g.65425993T>A	GRCh37
NC_000007.12:g.65063428T>A	NCBI36
NG_016197.1:g.26309A>T
NG_051954.1:g.92908T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1847A>T MANE Select	ENSP00000302728.4:p.Lys616Ile
ENST00000304895.8:c.1847A>T	ENSP00000302728.4:p.Lys616Ile
ENST00000421103.5:c.1409A>T	ENSP00000391390.1:p.Lys470Ile
ENST00000430730.5:c.*1114A>T	ENSP00000411859.1:n.*1114A>T
ENST00000447929.5:c.*1227A>T	ENSP00000411262.1:n.*1227A>T
ENST00000466883.5:n.2237A>T
NM_000181.3:c.1847A>T	NP_000172.2:p.Lys616Ile
NM_001284290.1:c.1409A>T	NP_001271219.1:p.Lys470Ile
NM_001293104.1:c.1277A>T	NP_001280033.1:p.Lys426Ile
NM_001293105.1:c.1190A>T	NP_001280034.1:p.Lys397Ile
NR_120531.1:n.1893A>T
XM_005250297.3:c.1694A>T	XP_005250354.1:p.Lys565Ile
XM_011516113.1:c.1346A>T	XP_011514415.1:p.Lys449Ile
XM_011516114.1:c.1175A>T	XP_011514416.1:p.Lys392Ile
XM_005250297.4:c.1694A>T	XP_005250354.1:p.Lys565Ile
XM_011516114.2:c.1175A>T	XP_011514416.1:p.Lys392Ile
XM_017012091.1:c.1193A>T	XP_016867580.1:p.Lys398Ile
XM_017012092.1:c.1124A>T	XP_016867581.1:p.Lys375Ile
XM_017012093.2:c.1022A>T	XP_016867582.1:p.Lys341Ile
XR_001744658.2:n.1654A>T
XR_001744659.2:n.1767A>T
XR_001744660.2:n.1699A>T
XR_001744661.2:n.1614A>T
XR_927461.3:n.1852A>T
NM_000181.4:c.1847A>T MANE Select	NP_000172.2:p.Lys616Ile
NM_001284290.2:c.1409A>T	NP_001271219.1:p.Lys470Ile
NM_001293104.2:c.1277A>T	NP_001280033.1:p.Lys426Ile
NM_001293105.2:c.1190A>T	NP_001280034.1:p.Lys397Ile
NR_120531.2:n.1792A>T