Canonical Allele Identifier: CA367640091

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432798A>C (hg19) ; chr7:g.65967811A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967811A>C , CM000669.2:g.65967811A>C	GRCh38
NC_000007.13:g.65432798A>C , CM000669.1:g.65432798A>C	GRCh37
NC_000007.12:g.65070233A>C	NCBI36
NG_016197.1:g.19504T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1573T>G MANE Select	ENSP00000302728.4:p.Phe525Val
ENST00000304895.8:c.1573T>G	ENSP00000302728.4:p.Phe525Val
ENST00000421103.5:c.1135T>G	ENSP00000391390.1:p.Phe379Val
ENST00000430730.5:c.*840T>G	ENSP00000411859.1:n.*840T>G
ENST00000447929.5:c.*953T>G	ENSP00000411262.1:n.*953T>G
ENST00000461622.1:n.98T>G
ENST00000462371.1:n.611T>G
ENST00000466883.5:n.1963T>G
NM_000181.3:c.1573T>G	NP_000172.2:p.Phe525Val
NM_001284290.1:c.1135T>G	NP_001271219.1:p.Phe379Val
NM_001293104.1:c.1003T>G	NP_001280033.1:p.Phe335Val
NM_001293105.1:c.916T>G	NP_001280034.1:p.Phe306Val
NR_120531.1:n.1619T>G
XM_005250297.3:c.1420T>G	XP_005250354.1:p.Phe474Val
XM_011516113.1:c.1072T>G	XP_011514415.1:p.Phe358Val
XM_011516114.1:c.901T>G	XP_011514416.1:p.Phe301Val
XR_927461.1:n.1659T>G
XM_005250297.4:c.1420T>G	XP_005250354.1:p.Phe474Val
XM_011516114.2:c.901T>G	XP_011514416.1:p.Phe301Val
XM_017012091.1:c.919T>G	XP_016867580.1:p.Phe307Val
XM_017012092.1:c.850T>G	XP_016867581.1:p.Phe284Val
XM_017012093.2:c.748T>G	XP_016867582.1:p.Phe250Val
XR_001744658.2:n.1380T>G
XR_001744659.2:n.1493T>G
XR_001744660.2:n.1425T>G
XR_001744661.2:n.1340T>G
XR_927461.3:n.1578T>G
NM_000181.4:c.1573T>G MANE Select	NP_000172.2:p.Phe525Val
NM_001284290.2:c.1135T>G	NP_001271219.1:p.Phe379Val
NM_001293104.2:c.1003T>G	NP_001280033.1:p.Phe335Val
NM_001293105.2:c.916T>G	NP_001280034.1:p.Phe306Val
NR_120531.2:n.1518T>G