Canonical Allele Identifier: CA367637408

Gene: GUSB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1847A>C MANE Select	ENSP00000302728.4:p.Lys616Thr
ENST00000304895.8:c.1847A>C	ENSP00000302728.4:p.Lys616Thr
ENST00000421103.5:c.1409A>C	ENSP00000391390.1:p.Lys470Thr
ENST00000430730.5:c.*1114A>C	ENSP00000411859.1:n.*1114A>C
ENST00000447929.5:c.*1227A>C	ENSP00000411262.1:n.*1227A>C
ENST00000466883.5:n.2237A>C
NM_000181.3:c.1847A>C	NP_000172.2:p.Lys616Thr
NM_001284290.1:c.1409A>C	NP_001271219.1:p.Lys470Thr
NM_001293104.1:c.1277A>C	NP_001280033.1:p.Lys426Thr
NM_001293105.1:c.1190A>C	NP_001280034.1:p.Lys397Thr
NR_120531.1:n.1893A>C
XM_005250297.3:c.1694A>C	XP_005250354.1:p.Lys565Thr
XM_011516113.1:c.1346A>C	XP_011514415.1:p.Lys449Thr
XM_011516114.1:c.1175A>C	XP_011514416.1:p.Lys392Thr
XM_005250297.4:c.1694A>C	XP_005250354.1:p.Lys565Thr
XM_011516114.2:c.1175A>C	XP_011514416.1:p.Lys392Thr
XM_017012091.1:c.1193A>C	XP_016867580.1:p.Lys398Thr
XM_017012092.1:c.1124A>C	XP_016867581.1:p.Lys375Thr
XM_017012093.2:c.1022A>C	XP_016867582.1:p.Lys341Thr
XR_001744658.2:n.1654A>C
XR_001744659.2:n.1767A>C
XR_001744660.2:n.1699A>C
XR_001744661.2:n.1614A>C
XR_927461.3:n.1852A>C
NM_000181.4:c.1847A>C MANE Select	NP_000172.2:p.Lys616Thr
NM_001284290.2:c.1409A>C	NP_001271219.1:p.Lys470Thr
NM_001293104.2:c.1277A>C	NP_001280033.1:p.Lys426Thr
NM_001293105.2:c.1190A>C	NP_001280034.1:p.Lys397Thr
NR_120531.2:n.1792A>C