Canonical Allele Identifier: CA367640321

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432845T>G (hg19) ; chr7:g.65967858T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967858T>G , CM000669.2:g.65967858T>G	GRCh38
NC_000007.13:g.65432845T>G , CM000669.1:g.65432845T>G	GRCh37
NC_000007.12:g.65070280T>G	NCBI36
NG_016197.1:g.19457A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1526A>C MANE Select	ENSP00000302728.4:p.His509Pro
ENST00000304895.8:c.1526A>C	ENSP00000302728.4:p.His509Pro
ENST00000421103.5:c.1088A>C	ENSP00000391390.1:p.His363Pro
ENST00000430730.5:c.*793A>C	ENSP00000411859.1:n.*793A>C
ENST00000447929.5:c.*906A>C	ENSP00000411262.1:n.*906A>C
ENST00000461622.1:n.51A>C
ENST00000462371.1:n.564A>C
ENST00000466883.5:n.1916A>C
NM_000181.3:c.1526A>C	NP_000172.2:p.His509Pro
NM_001284290.1:c.1088A>C	NP_001271219.1:p.His363Pro
NM_001293104.1:c.956A>C	NP_001280033.1:p.His319Pro
NM_001293105.1:c.869A>C	NP_001280034.1:p.His290Pro
NR_120531.1:n.1572A>C
XM_005250297.3:c.1373A>C	XP_005250354.1:p.His458Pro
XM_011516113.1:c.1025A>C	XP_011514415.1:p.His342Pro
XM_011516114.1:c.854A>C	XP_011514416.1:p.His285Pro
XR_927461.1:n.1612A>C
XM_005250297.4:c.1373A>C	XP_005250354.1:p.His458Pro
XM_011516114.2:c.854A>C	XP_011514416.1:p.His285Pro
XM_017012091.1:c.872A>C	XP_016867580.1:p.His291Pro
XM_017012092.1:c.803A>C	XP_016867581.1:p.His268Pro
XM_017012093.2:c.701A>C	XP_016867582.1:p.His234Pro
XR_001744658.2:n.1333A>C
XR_001744659.2:n.1446A>C
XR_001744660.2:n.1378A>C
XR_001744661.2:n.1293A>C
XR_927461.3:n.1531A>C
NM_000181.4:c.1526A>C MANE Select	NP_000172.2:p.His509Pro
NM_001284290.2:c.1088A>C	NP_001271219.1:p.His363Pro
NM_001293104.2:c.956A>C	NP_001280033.1:p.His319Pro
NM_001293105.2:c.869A>C	NP_001280034.1:p.His290Pro
NR_120531.2:n.1471A>C