Canonical Allele Identifier: CA4276244

Gene: GUSB

Linked Data

• dbSNP Id: rs768343264
• ExAC: 7:65432860 T / C
• gnomAD v2: 7-65432860-T-C
• gnomAD v4: 7-65967873-T-C
• MyVariant Identifiers: chr7:g.65432860T>C (hg19) ; chr7:g.65967873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967873T>C , CM000669.2:g.65967873T>C	GRCh38
NC_000007.13:g.65432860T>C , CM000669.1:g.65432860T>C	GRCh37
NC_000007.12:g.65070295T>C	NCBI36
NG_016197.1:g.19442A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1511A>G MANE Select	ENSP00000302728.4:p.Tyr504Cys
ENST00000304895.8:c.1511A>G	ENSP00000302728.4:p.Tyr504Cys
ENST00000421103.5:c.1073A>G	ENSP00000391390.1:p.Tyr358Cys
ENST00000430730.5:c.*778A>G	ENSP00000411859.1:n.*778A>G
ENST00000447929.5:c.*891A>G	ENSP00000411262.1:n.*891A>G
ENST00000461622.1:n.36A>G
ENST00000462371.1:n.549A>G
ENST00000466883.5:n.1901A>G
NM_000181.3:c.1511A>G	NP_000172.2:p.Tyr504Cys
NM_001284290.1:c.1073A>G	NP_001271219.1:p.Tyr358Cys
NM_001293104.1:c.941A>G	NP_001280033.1:p.Tyr314Cys
NM_001293105.1:c.854A>G	NP_001280034.1:p.Tyr285Cys
NR_120531.1:n.1557A>G
XM_005250297.3:c.1358A>G	XP_005250354.1:p.Tyr453Cys
XM_011516113.1:c.1010A>G	XP_011514415.1:p.Tyr337Cys
XM_011516114.1:c.839A>G	XP_011514416.1:p.Tyr280Cys
XR_927461.1:n.1597A>G
XM_005250297.4:c.1358A>G	XP_005250354.1:p.Tyr453Cys
XM_011516114.2:c.839A>G	XP_011514416.1:p.Tyr280Cys
XM_017012091.1:c.857A>G	XP_016867580.1:p.Tyr286Cys
XM_017012092.1:c.788A>G	XP_016867581.1:p.Tyr263Cys
XM_017012093.2:c.686A>G	XP_016867582.1:p.Tyr229Cys
XR_001744658.2:n.1318A>G
XR_001744659.2:n.1431A>G
XR_001744660.2:n.1363A>G
XR_001744661.2:n.1278A>G
XR_927461.3:n.1516A>G
NM_000181.4:c.1511A>G MANE Select	NP_000172.2:p.Tyr504Cys
NM_001284290.2:c.1073A>G	NP_001271219.1:p.Tyr358Cys
NM_001293104.2:c.941A>G	NP_001280033.1:p.Tyr314Cys
NM_001293105.2:c.854A>G	NP_001280034.1:p.Tyr285Cys
NR_120531.2:n.1456A>G