Canonical Allele Identifier: CA367640592

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967904-G-A
• COSMIC: COSM1330555
• MyVariant Identifiers: chr7:g.65432891G>A (hg19) ; chr7:g.65967904G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967904G>A , CM000669.2:g.65967904G>A	GRCh38
NC_000007.13:g.65432891G>A , CM000669.1:g.65432891G>A	GRCh37
NC_000007.12:g.65070326G>A	NCBI36
NG_016197.1:g.19411C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1480C>T MANE Select	ENSP00000302728.4:p.Pro494Ser
ENST00000304895.8:c.1480C>T	ENSP00000302728.4:p.Pro494Ser
ENST00000421103.5:c.1042C>T	ENSP00000391390.1:p.Pro348Ser
ENST00000430730.5:c.*747C>T	ENSP00000411859.1:n.*747C>T
ENST00000447929.5:c.*860C>T	ENSP00000411262.1:n.*860C>T
ENST00000461622.1:n.5C>T
ENST00000462371.1:n.518C>T
ENST00000466883.5:n.1870C>T
NM_000181.3:c.1480C>T	NP_000172.2:p.Pro494Ser
NM_001284290.1:c.1042C>T	NP_001271219.1:p.Pro348Ser
NM_001293104.1:c.910C>T	NP_001280033.1:p.Pro304Ser
NM_001293105.1:c.823C>T	NP_001280034.1:p.Pro275Ser
NR_120531.1:n.1526C>T
XM_005250297.3:c.1327C>T	XP_005250354.1:p.Pro443Ser
XM_011516113.1:c.979C>T	XP_011514415.1:p.Pro327Ser
XM_011516114.1:c.808C>T	XP_011514416.1:p.Pro270Ser
XR_927461.1:n.1566C>T
XM_005250297.4:c.1327C>T	XP_005250354.1:p.Pro443Ser
XM_011516114.2:c.808C>T	XP_011514416.1:p.Pro270Ser
XM_017012091.1:c.826C>T	XP_016867580.1:p.Pro276Ser
XM_017012092.1:c.757C>T	XP_016867581.1:p.Pro253Ser
XM_017012093.2:c.655C>T	XP_016867582.1:p.Pro219Ser
XR_001744658.2:n.1287C>T
XR_001744659.2:n.1400C>T
XR_001744660.2:n.1332C>T
XR_001744661.2:n.1247C>T
XR_927461.3:n.1485C>T
NM_000181.4:c.1480C>T MANE Select	NP_000172.2:p.Pro494Ser
NM_001284290.2:c.1042C>T	NP_001271219.1:p.Pro348Ser
NM_001293104.2:c.910C>T	NP_001280033.1:p.Pro304Ser
NM_001293105.2:c.823C>T	NP_001280034.1:p.Pro275Ser
NR_120531.2:n.1425C>T