Canonical Allele Identifier: CA367640113

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432803G>C (hg19) ; chr7:g.65967816G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967816G>C , CM000669.2:g.65967816G>C	GRCh38
NC_000007.13:g.65432803G>C , CM000669.1:g.65432803G>C	GRCh37
NC_000007.12:g.65070238G>C	NCBI36
NG_016197.1:g.19499C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1568C>G MANE Select	ENSP00000302728.4:p.Thr523Ser
ENST00000304895.8:c.1568C>G	ENSP00000302728.4:p.Thr523Ser
ENST00000421103.5:c.1130C>G	ENSP00000391390.1:p.Thr377Ser
ENST00000430730.5:c.*835C>G	ENSP00000411859.1:n.*835C>G
ENST00000447929.5:c.*948C>G	ENSP00000411262.1:n.*948C>G
ENST00000461622.1:n.93C>G
ENST00000462371.1:n.606C>G
ENST00000466883.5:n.1958C>G
NM_000181.3:c.1568C>G	NP_000172.2:p.Thr523Ser
NM_001284290.1:c.1130C>G	NP_001271219.1:p.Thr377Ser
NM_001293104.1:c.998C>G	NP_001280033.1:p.Thr333Ser
NM_001293105.1:c.911C>G	NP_001280034.1:p.Thr304Ser
NR_120531.1:n.1614C>G
XM_005250297.3:c.1415C>G	XP_005250354.1:p.Thr472Ser
XM_011516113.1:c.1067C>G	XP_011514415.1:p.Thr356Ser
XM_011516114.1:c.896C>G	XP_011514416.1:p.Thr299Ser
XR_927461.1:n.1654C>G
XM_005250297.4:c.1415C>G	XP_005250354.1:p.Thr472Ser
XM_011516114.2:c.896C>G	XP_011514416.1:p.Thr299Ser
XM_017012091.1:c.914C>G	XP_016867580.1:p.Thr305Ser
XM_017012092.1:c.845C>G	XP_016867581.1:p.Thr282Ser
XM_017012093.2:c.743C>G	XP_016867582.1:p.Thr248Ser
XR_001744658.2:n.1375C>G
XR_001744659.2:n.1488C>G
XR_001744660.2:n.1420C>G
XR_001744661.2:n.1335C>G
XR_927461.3:n.1573C>G
NM_000181.4:c.1568C>G MANE Select	NP_000172.2:p.Thr523Ser
NM_001284290.2:c.1130C>G	NP_001271219.1:p.Thr377Ser
NM_001293104.2:c.998C>G	NP_001280033.1:p.Thr333Ser
NM_001293105.2:c.911C>G	NP_001280034.1:p.Thr304Ser
NR_120531.2:n.1513C>G