Canonical Allele Identifier: CA367640062

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432792T>C (hg19) ; chr7:g.65967805T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967805T>C , CM000669.2:g.65967805T>C	GRCh38
NC_000007.13:g.65432792T>C , CM000669.1:g.65432792T>C	GRCh37
NC_000007.12:g.65070227T>C	NCBI36
NG_016197.1:g.19510A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1579A>G MANE Select	ENSP00000302728.4:p.Asn527Asp
ENST00000304895.8:c.1579A>G	ENSP00000302728.4:p.Asn527Asp
ENST00000421103.5:c.1141A>G	ENSP00000391390.1:p.Asn381Asp
ENST00000430730.5:c.*846A>G	ENSP00000411859.1:n.*846A>G
ENST00000447929.5:c.*959A>G	ENSP00000411262.1:n.*959A>G
ENST00000461622.1:n.104A>G
ENST00000462371.1:n.617A>G
ENST00000466883.5:n.1969A>G
NM_000181.3:c.1579A>G	NP_000172.2:p.Asn527Asp
NM_001284290.1:c.1141A>G	NP_001271219.1:p.Asn381Asp
NM_001293104.1:c.1009A>G	NP_001280033.1:p.Asn337Asp
NM_001293105.1:c.922A>G	NP_001280034.1:p.Asn308Asp
NR_120531.1:n.1625A>G
XM_005250297.3:c.1426A>G	XP_005250354.1:p.Asn476Asp
XM_011516113.1:c.1078A>G	XP_011514415.1:p.Asn360Asp
XM_011516114.1:c.907A>G	XP_011514416.1:p.Asn303Asp
XR_927461.1:n.1665A>G
XM_005250297.4:c.1426A>G	XP_005250354.1:p.Asn476Asp
XM_011516114.2:c.907A>G	XP_011514416.1:p.Asn303Asp
XM_017012091.1:c.925A>G	XP_016867580.1:p.Asn309Asp
XM_017012092.1:c.856A>G	XP_016867581.1:p.Asn286Asp
XM_017012093.2:c.754A>G	XP_016867582.1:p.Asn252Asp
XR_001744658.2:n.1386A>G
XR_001744659.2:n.1499A>G
XR_001744660.2:n.1431A>G
XR_001744661.2:n.1346A>G
XR_927461.3:n.1584A>G
NM_000181.4:c.1579A>G MANE Select	NP_000172.2:p.Asn527Asp
NM_001284290.2:c.1141A>G	NP_001271219.1:p.Asn381Asp
NM_001293104.2:c.1009A>G	NP_001280033.1:p.Asn337Asp
NM_001293105.2:c.922A>G	NP_001280034.1:p.Asn308Asp
NR_120531.2:n.1524A>G