Canonical Allele Identifier: CA4276149

Gene: GUSB

Linked Data

• ClinVar Variation Id: 1051643
• ClinVar RCV Id: RCV001359710
• dbSNP Id: rs756035101
• ExAC: 7:65425953 A / C
• gnomAD v2: 7-65425953-A-C
• gnomAD v3: 7-65960966-A-C
• gnomAD v4: 7-65960966-A-C
• MyVariant Identifiers: chr7:g.65425953A>C (hg19) ; chr7:g.65960966A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960966A>C , CM000669.2:g.65960966A>C	GRCh38
NC_000007.13:g.65425953A>C , CM000669.1:g.65425953A>C	GRCh37
NC_000007.12:g.65063388A>C	NCBI36
NG_016197.1:g.26349T>G
NG_051954.1:g.92868A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1887T>G MANE Select	ENSP00000302728.4:p.Ile629Met
ENST00000304895.8:c.1887T>G	ENSP00000302728.4:p.Ile629Met
ENST00000421103.5:c.1449T>G	ENSP00000391390.1:p.Ile483Met
ENST00000430730.5:c.*1154T>G	ENSP00000411859.1:n.*1154T>G
ENST00000447929.5:c.*1267T>G	ENSP00000411262.1:n.*1267T>G
ENST00000466883.5:n.2277T>G
NM_000181.3:c.1887T>G	NP_000172.2:p.Ile629Met
NM_001284290.1:c.1449T>G	NP_001271219.1:p.Ile483Met
NM_001293104.1:c.1317T>G	NP_001280033.1:p.Ile439Met
NM_001293105.1:c.1230T>G	NP_001280034.1:p.Ile410Met
NR_120531.1:n.1933T>G
XM_005250297.3:c.1734T>G	XP_005250354.1:p.Ile578Met
XM_011516113.1:c.1386T>G	XP_011514415.1:p.Ile462Met
XM_011516114.1:c.1215T>G	XP_011514416.1:p.Ile405Met
XM_005250297.4:c.1734T>G	XP_005250354.1:p.Ile578Met
XM_011516114.2:c.1215T>G	XP_011514416.1:p.Ile405Met
XM_017012091.1:c.1233T>G	XP_016867580.1:p.Ile411Met
XM_017012092.1:c.1164T>G	XP_016867581.1:p.Ile388Met
XM_017012093.2:c.1062T>G	XP_016867582.1:p.Ile354Met
XR_001744658.2:n.1694T>G
XR_001744659.2:n.1807T>G
XR_001744660.2:n.1739T>G
XR_001744661.2:n.1654T>G
XR_927461.3:n.1892T>G
NM_000181.4:c.1887T>G MANE Select	NP_000172.2:p.Ile629Met
NM_001284290.2:c.1449T>G	NP_001271219.1:p.Ile483Met
NM_001293104.2:c.1317T>G	NP_001280033.1:p.Ile439Met
NM_001293105.2:c.1230T>G	NP_001280034.1:p.Ile410Met
NR_120531.2:n.1832T>G