Canonical Allele Identifier: CA367637183

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425946C>G (hg19) ; chr7:g.65960959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960959C>G , CM000669.2:g.65960959C>G	GRCh38
NC_000007.13:g.65425946C>G , CM000669.1:g.65425946C>G	GRCh37
NC_000007.12:g.65063381C>G	NCBI36
NG_016197.1:g.26356G>C
NG_051954.1:g.92861C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1894G>C MANE Select	ENSP00000302728.4:p.Glu632Gln
ENST00000304895.8:c.1894G>C	ENSP00000302728.4:p.Glu632Gln
ENST00000421103.5:c.1456G>C	ENSP00000391390.1:p.Glu486Gln
ENST00000430730.5:c.*1161G>C	ENSP00000411859.1:n.*1161G>C
ENST00000447929.5:c.*1274G>C	ENSP00000411262.1:n.*1274G>C
ENST00000466883.5:n.2284G>C
NM_000181.3:c.1894G>C	NP_000172.2:p.Glu632Gln
NM_001284290.1:c.1456G>C	NP_001271219.1:p.Glu486Gln
NM_001293104.1:c.1324G>C	NP_001280033.1:p.Glu442Gln
NM_001293105.1:c.1237G>C	NP_001280034.1:p.Glu413Gln
NR_120531.1:n.1940G>C
XM_005250297.3:c.1741G>C	XP_005250354.1:p.Glu581Gln
XM_011516113.1:c.1393G>C	XP_011514415.1:p.Glu465Gln
XM_011516114.1:c.1222G>C	XP_011514416.1:p.Glu408Gln
XM_005250297.4:c.1741G>C	XP_005250354.1:p.Glu581Gln
XM_011516114.2:c.1222G>C	XP_011514416.1:p.Glu408Gln
XM_017012091.1:c.1240G>C	XP_016867580.1:p.Glu414Gln
XM_017012092.1:c.1171G>C	XP_016867581.1:p.Glu391Gln
XM_017012093.2:c.1069G>C	XP_016867582.1:p.Glu357Gln
XR_001744658.2:n.1701G>C
XR_001744659.2:n.1814G>C
XR_001744660.2:n.1746G>C
XR_001744661.2:n.1661G>C
XR_927461.3:n.1899G>C
NM_000181.4:c.1894G>C MANE Select	NP_000172.2:p.Glu632Gln
NM_001284290.2:c.1456G>C	NP_001271219.1:p.Glu486Gln
NM_001293104.2:c.1324G>C	NP_001280033.1:p.Glu442Gln
NM_001293105.2:c.1237G>C	NP_001280034.1:p.Glu413Gln
NR_120531.2:n.1839G>C