Canonical Allele Identifier: CA367639709

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432721G>C (hg19) ; chr7:g.65967734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967734G>C , CM000669.2:g.65967734G>C	GRCh38
NC_000007.13:g.65432721G>C , CM000669.1:g.65432721G>C	GRCh37
NC_000007.12:g.65070156G>C	NCBI36
NG_016197.1:g.19581C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1650C>G MANE Select	ENSP00000302728.4:p.His550Gln
ENST00000304895.8:c.1650C>G	ENSP00000302728.4:p.His550Gln
ENST00000421103.5:c.1212C>G	ENSP00000391390.1:p.His404Gln
ENST00000430730.5:c.*917C>G	ENSP00000411859.1:n.*917C>G
ENST00000447929.5:c.*1030C>G	ENSP00000411262.1:n.*1030C>G
ENST00000461622.1:n.175C>G
ENST00000462371.1:n.688C>G
ENST00000466883.5:n.2040C>G
NM_000181.3:c.1650C>G	NP_000172.2:p.His550Gln
NM_001284290.1:c.1212C>G	NP_001271219.1:p.His404Gln
NM_001293104.1:c.1080C>G	NP_001280033.1:p.His360Gln
NM_001293105.1:c.993C>G	NP_001280034.1:p.His331Gln
NR_120531.1:n.1696C>G
XM_005250297.3:c.1497C>G	XP_005250354.1:p.His499Gln
XM_011516113.1:c.1149C>G	XP_011514415.1:p.His383Gln
XM_011516114.1:c.978C>G	XP_011514416.1:p.His326Gln
XR_927461.1:n.1736C>G
XM_005250297.4:c.1497C>G	XP_005250354.1:p.His499Gln
XM_011516114.2:c.978C>G	XP_011514416.1:p.His326Gln
XM_017012091.1:c.996C>G	XP_016867580.1:p.His332Gln
XM_017012092.1:c.927C>G	XP_016867581.1:p.His309Gln
XM_017012093.2:c.825C>G	XP_016867582.1:p.His275Gln
XR_001744658.2:n.1457C>G
XR_001744659.2:n.1570C>G
XR_001744660.2:n.1502C>G
XR_001744661.2:n.1417C>G
XR_927461.3:n.1655C>G
NM_000181.4:c.1650C>G MANE Select	NP_000172.2:p.His550Gln
NM_001284290.2:c.1212C>G	NP_001271219.1:p.His404Gln
NM_001293104.2:c.1080C>G	NP_001280033.1:p.His360Gln
NM_001293105.2:c.993C>G	NP_001280034.1:p.His331Gln
NR_120531.2:n.1595C>G