Canonical Allele Identifier: CA145853

Gene: GUSB

Linked Data

• ClinVar Variation Id: 92588
• ClinVar RCV Id: RCV000078327 ; RCV000394365 ; RCV000675829
• dbSNP Id: rs9530
• ExAC: 7:65425894 A / G
• gnomAD v2: 7-65425894-A-G
• gnomAD v3: 7-65960907-A-G
• gnomAD v4: 7-65960907-A-G
• MyVariant Identifiers: chr7:g.65425894A>G (hg19) ; chr7:g.65960907A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960907A>G , CM000669.2:g.65960907A>G	GRCh38
NC_000007.13:g.65425894A>G , CM000669.1:g.65425894A>G	GRCh37
NC_000007.12:g.65063329A>G	NCBI36
NG_016197.1:g.26408T>C
NG_051954.1:g.92809A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1946T>C MANE Select	ENSP00000302728.4:p.Leu649Pro
ENST00000304895.8:c.1946T>C	ENSP00000302728.4:p.Leu649Pro
ENST00000421103.5:c.1508T>C	ENSP00000391390.1:p.Leu503Pro
ENST00000430730.5:c.*1213T>C	ENSP00000411859.1:n.*1213T>C
ENST00000447929.5:c.*1326T>C	ENSP00000411262.1:n.*1326T>C
ENST00000466883.5:n.2336T>C
NM_000181.3:c.1946T>C	NP_000172.2:p.Leu649Pro
NM_001284290.1:c.1508T>C	NP_001271219.1:p.Leu503Pro
NM_001293104.1:c.1376T>C	NP_001280033.1:p.Leu459Pro
NM_001293105.1:c.1289T>C	NP_001280034.1:p.Leu430Pro
NR_120531.1:n.1992T>C
XM_005250297.3:c.1793T>C	XP_005250354.1:p.Leu598Pro
XM_011516113.1:c.1445T>C	XP_011514415.1:p.Leu482Pro
XM_011516114.1:c.1274T>C	XP_011514416.1:p.Leu425Pro
XM_005250297.4:c.1793T>C	XP_005250354.1:p.Leu598Pro
XM_011516114.2:c.1274T>C	XP_011514416.1:p.Leu425Pro
XM_017012091.1:c.1292T>C	XP_016867580.1:p.Leu431Pro
XM_017012092.1:c.1223T>C	XP_016867581.1:p.Leu408Pro
XM_017012093.2:c.1121T>C	XP_016867582.1:p.Leu374Pro
XR_001744658.2:n.1753T>C
XR_001744659.2:n.1866T>C
XR_001744660.2:n.1798T>C
XR_001744661.2:n.1713T>C
XR_927461.3:n.1951T>C
NM_000181.4:c.1946T>C MANE Select	NP_000172.2:p.Leu649Pro
NM_001284290.2:c.1508T>C	NP_001271219.1:p.Leu503Pro
NM_001293104.2:c.1376T>C	NP_001280033.1:p.Leu459Pro
NM_001293105.2:c.1289T>C	NP_001280034.1:p.Leu430Pro
NR_120531.2:n.1891T>C