Canonical Allele Identifier: CA367637279

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425967T>C (hg19) ; chr7:g.65960980T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960980T>C , CM000669.2:g.65960980T>C	GRCh38
NC_000007.13:g.65425967T>C , CM000669.1:g.65425967T>C	GRCh37
NC_000007.12:g.65063402T>C	NCBI36
NG_016197.1:g.26335A>G
NG_051954.1:g.92882T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1873A>G MANE Select	ENSP00000302728.4:p.Arg625Gly
ENST00000304895.8:c.1873A>G	ENSP00000302728.4:p.Arg625Gly
ENST00000421103.5:c.1435A>G	ENSP00000391390.1:p.Arg479Gly
ENST00000430730.5:c.*1140A>G	ENSP00000411859.1:n.*1140A>G
ENST00000447929.5:c.*1253A>G	ENSP00000411262.1:n.*1253A>G
ENST00000466883.5:n.2263A>G
NM_000181.3:c.1873A>G	NP_000172.2:p.Arg625Gly
NM_001284290.1:c.1435A>G	NP_001271219.1:p.Arg479Gly
NM_001293104.1:c.1303A>G	NP_001280033.1:p.Arg435Gly
NM_001293105.1:c.1216A>G	NP_001280034.1:p.Arg406Gly
NR_120531.1:n.1919A>G
XM_005250297.3:c.1720A>G	XP_005250354.1:p.Arg574Gly
XM_011516113.1:c.1372A>G	XP_011514415.1:p.Arg458Gly
XM_011516114.1:c.1201A>G	XP_011514416.1:p.Arg401Gly
XM_005250297.4:c.1720A>G	XP_005250354.1:p.Arg574Gly
XM_011516114.2:c.1201A>G	XP_011514416.1:p.Arg401Gly
XM_017012091.1:c.1219A>G	XP_016867580.1:p.Arg407Gly
XM_017012092.1:c.1150A>G	XP_016867581.1:p.Arg384Gly
XM_017012093.2:c.1048A>G	XP_016867582.1:p.Arg350Gly
XR_001744658.2:n.1680A>G
XR_001744659.2:n.1793A>G
XR_001744660.2:n.1725A>G
XR_001744661.2:n.1640A>G
XR_927461.3:n.1878A>G
NM_000181.4:c.1873A>G MANE Select	NP_000172.2:p.Arg625Gly
NM_001284290.2:c.1435A>G	NP_001271219.1:p.Arg479Gly
NM_001293104.2:c.1303A>G	NP_001280033.1:p.Arg435Gly
NM_001293105.2:c.1216A>G	NP_001280034.1:p.Arg406Gly
NR_120531.2:n.1818A>G