Canonical Allele Identifier: CA367636941

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425892A>C (hg19) ; chr7:g.65960905A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960905A>C , CM000669.2:g.65960905A>C	GRCh38
NC_000007.13:g.65425892A>C , CM000669.1:g.65425892A>C	GRCh37
NC_000007.12:g.65063327A>C	NCBI36
NG_016197.1:g.26410T>G
NG_051954.1:g.92807A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1948T>G MANE Select	ENSP00000302728.4:p.Phe650Val
ENST00000304895.8:c.1948T>G	ENSP00000302728.4:p.Phe650Val
ENST00000421103.5:c.1510T>G	ENSP00000391390.1:p.Phe504Val
ENST00000430730.5:c.*1215T>G	ENSP00000411859.1:n.*1215T>G
ENST00000447929.5:c.*1328T>G	ENSP00000411262.1:n.*1328T>G
ENST00000466883.5:n.2338T>G
NM_000181.3:c.1948T>G	NP_000172.2:p.Phe650Val
NM_001284290.1:c.1510T>G	NP_001271219.1:p.Phe504Val
NM_001293104.1:c.1378T>G	NP_001280033.1:p.Phe460Val
NM_001293105.1:c.1291T>G	NP_001280034.1:p.Phe431Val
NR_120531.1:n.1994T>G
XM_005250297.3:c.1795T>G	XP_005250354.1:p.Phe599Val
XM_011516113.1:c.1447T>G	XP_011514415.1:p.Phe483Val
XM_011516114.1:c.1276T>G	XP_011514416.1:p.Phe426Val
XM_005250297.4:c.1795T>G	XP_005250354.1:p.Phe599Val
XM_011516114.2:c.1276T>G	XP_011514416.1:p.Phe426Val
XM_017012091.1:c.1294T>G	XP_016867580.1:p.Phe432Val
XM_017012092.1:c.1225T>G	XP_016867581.1:p.Phe409Val
XM_017012093.2:c.1123T>G	XP_016867582.1:p.Phe375Val
XR_001744658.2:n.1755T>G
XR_001744659.2:n.1868T>G
XR_001744660.2:n.1800T>G
XR_001744661.2:n.1715T>G
XR_927461.3:n.1953T>G
NM_000181.4:c.1948T>G MANE Select	NP_000172.2:p.Phe650Val
NM_001284290.2:c.1510T>G	NP_001271219.1:p.Phe504Val
NM_001293104.2:c.1378T>G	NP_001280033.1:p.Phe460Val
NM_001293105.2:c.1291T>G	NP_001280034.1:p.Phe431Val
NR_120531.2:n.1893T>G