Canonical Allele Identifier: CA367637212

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425954A>C (hg19) ; chr7:g.65960967A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960967A>C , CM000669.2:g.65960967A>C	GRCh38
NC_000007.13:g.65425954A>C , CM000669.1:g.65425954A>C	GRCh37
NC_000007.12:g.65063389A>C	NCBI36
NG_016197.1:g.26348T>G
NG_051954.1:g.92869A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1886T>G MANE Select	ENSP00000302728.4:p.Ile629Ser
ENST00000304895.8:c.1886T>G	ENSP00000302728.4:p.Ile629Ser
ENST00000421103.5:c.1448T>G	ENSP00000391390.1:p.Ile483Ser
ENST00000430730.5:c.*1153T>G	ENSP00000411859.1:n.*1153T>G
ENST00000447929.5:c.*1266T>G	ENSP00000411262.1:n.*1266T>G
ENST00000466883.5:n.2276T>G
NM_000181.3:c.1886T>G	NP_000172.2:p.Ile629Ser
NM_001284290.1:c.1448T>G	NP_001271219.1:p.Ile483Ser
NM_001293104.1:c.1316T>G	NP_001280033.1:p.Ile439Ser
NM_001293105.1:c.1229T>G	NP_001280034.1:p.Ile410Ser
NR_120531.1:n.1932T>G
XM_005250297.3:c.1733T>G	XP_005250354.1:p.Ile578Ser
XM_011516113.1:c.1385T>G	XP_011514415.1:p.Ile462Ser
XM_011516114.1:c.1214T>G	XP_011514416.1:p.Ile405Ser
XM_005250297.4:c.1733T>G	XP_005250354.1:p.Ile578Ser
XM_011516114.2:c.1214T>G	XP_011514416.1:p.Ile405Ser
XM_017012091.1:c.1232T>G	XP_016867580.1:p.Ile411Ser
XM_017012092.1:c.1163T>G	XP_016867581.1:p.Ile388Ser
XM_017012093.2:c.1061T>G	XP_016867582.1:p.Ile354Ser
XR_001744658.2:n.1693T>G
XR_001744659.2:n.1806T>G
XR_001744660.2:n.1738T>G
XR_001744661.2:n.1653T>G
XR_927461.3:n.1891T>G
NM_000181.4:c.1886T>G MANE Select	NP_000172.2:p.Ile629Ser
NM_001284290.2:c.1448T>G	NP_001271219.1:p.Ile483Ser
NM_001293104.2:c.1316T>G	NP_001280033.1:p.Ile439Ser
NM_001293105.2:c.1229T>G	NP_001280034.1:p.Ile410Ser
NR_120531.2:n.1831T>G