Canonical Allele Identifier: CA367640589

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967903-G-C
• MyVariant Identifiers: chr7:g.65432890G>C (hg19) ; chr7:g.65967903G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967903G>C , CM000669.2:g.65967903G>C	GRCh38
NC_000007.13:g.65432890G>C , CM000669.1:g.65432890G>C	GRCh37
NC_000007.12:g.65070325G>C	NCBI36
NG_016197.1:g.19412C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1481C>G MANE Select	ENSP00000302728.4:p.Pro494Arg
ENST00000304895.8:c.1481C>G	ENSP00000302728.4:p.Pro494Arg
ENST00000421103.5:c.1043C>G	ENSP00000391390.1:p.Pro348Arg
ENST00000430730.5:c.*748C>G	ENSP00000411859.1:n.*748C>G
ENST00000447929.5:c.*861C>G	ENSP00000411262.1:n.*861C>G
ENST00000461622.1:n.6C>G
ENST00000462371.1:n.519C>G
ENST00000466883.5:n.1871C>G
NM_000181.3:c.1481C>G	NP_000172.2:p.Pro494Arg
NM_001284290.1:c.1043C>G	NP_001271219.1:p.Pro348Arg
NM_001293104.1:c.911C>G	NP_001280033.1:p.Pro304Arg
NM_001293105.1:c.824C>G	NP_001280034.1:p.Pro275Arg
NR_120531.1:n.1527C>G
XM_005250297.3:c.1328C>G	XP_005250354.1:p.Pro443Arg
XM_011516113.1:c.980C>G	XP_011514415.1:p.Pro327Arg
XM_011516114.1:c.809C>G	XP_011514416.1:p.Pro270Arg
XR_927461.1:n.1567C>G
XM_005250297.4:c.1328C>G	XP_005250354.1:p.Pro443Arg
XM_011516114.2:c.809C>G	XP_011514416.1:p.Pro270Arg
XM_017012091.1:c.827C>G	XP_016867580.1:p.Pro276Arg
XM_017012092.1:c.758C>G	XP_016867581.1:p.Pro253Arg
XM_017012093.2:c.656C>G	XP_016867582.1:p.Pro219Arg
XR_001744658.2:n.1288C>G
XR_001744659.2:n.1401C>G
XR_001744660.2:n.1333C>G
XR_001744661.2:n.1248C>G
XR_927461.3:n.1486C>G
NM_000181.4:c.1481C>G MANE Select	NP_000172.2:p.Pro494Arg
NM_001284290.2:c.1043C>G	NP_001271219.1:p.Pro348Arg
NM_001293104.2:c.911C>G	NP_001280033.1:p.Pro304Arg
NM_001293105.2:c.824C>G	NP_001280034.1:p.Pro275Arg
NR_120531.2:n.1426C>G