Canonical Allele Identifier: CA4276154

Gene: GUSB

Linked Data

• dbSNP Id: rs772122474
• ExAC: 7:65425987 G / C
• gnomAD v2: 7-65425987-G-C
• gnomAD v4: 7-65961000-G-C
• MyVariant Identifiers: chr7:g.65425987G>C (hg19) ; chr7:g.65961000G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961000G>C , CM000669.2:g.65961000G>C	GRCh38
NC_000007.13:g.65425987G>C , CM000669.1:g.65425987G>C	GRCh37
NC_000007.12:g.65063422G>C	NCBI36
NG_016197.1:g.26315C>G
NG_051954.1:g.92902G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1853C>G MANE Select	ENSP00000302728.4:p.Ala618Gly
ENST00000304895.8:c.1853C>G	ENSP00000302728.4:p.Ala618Gly
ENST00000421103.5:c.1415C>G	ENSP00000391390.1:p.Ala472Gly
ENST00000430730.5:c.*1120C>G	ENSP00000411859.1:n.*1120C>G
ENST00000447929.5:c.*1233C>G	ENSP00000411262.1:n.*1233C>G
ENST00000466883.5:n.2243C>G
NM_000181.3:c.1853C>G	NP_000172.2:p.Ala618Gly
NM_001284290.1:c.1415C>G	NP_001271219.1:p.Ala472Gly
NM_001293104.1:c.1283C>G	NP_001280033.1:p.Ala428Gly
NM_001293105.1:c.1196C>G	NP_001280034.1:p.Ala399Gly
NR_120531.1:n.1899C>G
XM_005250297.3:c.1700C>G	XP_005250354.1:p.Ala567Gly
XM_011516113.1:c.1352C>G	XP_011514415.1:p.Ala451Gly
XM_011516114.1:c.1181C>G	XP_011514416.1:p.Ala394Gly
XM_005250297.4:c.1700C>G	XP_005250354.1:p.Ala567Gly
XM_011516114.2:c.1181C>G	XP_011514416.1:p.Ala394Gly
XM_017012091.1:c.1199C>G	XP_016867580.1:p.Ala400Gly
XM_017012092.1:c.1130C>G	XP_016867581.1:p.Ala377Gly
XM_017012093.2:c.1028C>G	XP_016867582.1:p.Ala343Gly
XR_001744658.2:n.1660C>G
XR_001744659.2:n.1773C>G
XR_001744660.2:n.1705C>G
XR_001744661.2:n.1620C>G
XR_927461.3:n.1858C>G
NM_000181.4:c.1853C>G MANE Select	NP_000172.2:p.Ala618Gly
NM_001284290.2:c.1415C>G	NP_001271219.1:p.Ala472Gly
NM_001293104.2:c.1283C>G	NP_001280033.1:p.Ala428Gly
NM_001293105.2:c.1196C>G	NP_001280034.1:p.Ala399Gly
NR_120531.2:n.1798C>G