Canonical Allele Identifier: CA367637540

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426018T>C (hg19) ; chr7:g.65961031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961031T>C , CM000669.2:g.65961031T>C	GRCh38
NC_000007.13:g.65426018T>C , CM000669.1:g.65426018T>C	GRCh37
NC_000007.12:g.65063453T>C	NCBI36
NG_016197.1:g.26284A>G
NG_051954.1:g.92933T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1822A>G MANE Select	ENSP00000302728.4:p.Ile608Val
ENST00000304895.8:c.1822A>G	ENSP00000302728.4:p.Ile608Val
ENST00000421103.5:c.1384A>G	ENSP00000391390.1:p.Ile462Val
ENST00000430730.5:c.*1089A>G	ENSP00000411859.1:n.*1089A>G
ENST00000447929.5:c.*1202A>G	ENSP00000411262.1:n.*1202A>G
ENST00000466883.5:n.2212A>G
NM_000181.3:c.1822A>G	NP_000172.2:p.Ile608Val
NM_001284290.1:c.1384A>G	NP_001271219.1:p.Ile462Val
NM_001293104.1:c.1252A>G	NP_001280033.1:p.Ile418Val
NM_001293105.1:c.1165A>G	NP_001280034.1:p.Ile389Val
NR_120531.1:n.1868A>G
XM_005250297.3:c.1669A>G	XP_005250354.1:p.Ile557Val
XM_011516113.1:c.1321A>G	XP_011514415.1:p.Ile441Val
XM_011516114.1:c.1150A>G	XP_011514416.1:p.Ile384Val
XM_005250297.4:c.1669A>G	XP_005250354.1:p.Ile557Val
XM_011516114.2:c.1150A>G	XP_011514416.1:p.Ile384Val
XM_017012091.1:c.1168A>G	XP_016867580.1:p.Ile390Val
XM_017012092.1:c.1099A>G	XP_016867581.1:p.Ile367Val
XM_017012093.2:c.997A>G	XP_016867582.1:p.Ile333Val
XR_001744658.2:n.1629A>G
XR_001744659.2:n.1742A>G
XR_001744660.2:n.1674A>G
XR_001744661.2:n.1589A>G
XR_927461.3:n.1827A>G
NM_000181.4:c.1822A>G MANE Select	NP_000172.2:p.Ile608Val
NM_001284290.2:c.1384A>G	NP_001271219.1:p.Ile462Val
NM_001293104.2:c.1252A>G	NP_001280033.1:p.Ile418Val
NM_001293105.2:c.1165A>G	NP_001280034.1:p.Ile389Val
NR_120531.2:n.1767A>G