Canonical Allele Identifier: CA367639708

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967733-G-T
• MyVariant Identifiers: chr7:g.65432720G>T (hg19) ; chr7:g.65967733G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967733G>T , CM000669.2:g.65967733G>T	GRCh38
NC_000007.13:g.65432720G>T , CM000669.1:g.65432720G>T	GRCh37
NC_000007.12:g.65070155G>T	NCBI36
NG_016197.1:g.19582C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1651C>A MANE Select	ENSP00000302728.4:p.Gln551Lys
ENST00000304895.8:c.1651C>A	ENSP00000302728.4:p.Gln551Lys
ENST00000421103.5:c.1213C>A	ENSP00000391390.1:p.Gln405Lys
ENST00000430730.5:c.*918C>A	ENSP00000411859.1:n.*918C>A
ENST00000447929.5:c.*1031C>A	ENSP00000411262.1:n.*1031C>A
ENST00000461622.1:n.176C>A
ENST00000462371.1:n.689C>A
ENST00000466883.5:n.2041C>A
NM_000181.3:c.1651C>A	NP_000172.2:p.Gln551Lys
NM_001284290.1:c.1213C>A	NP_001271219.1:p.Gln405Lys
NM_001293104.1:c.1081C>A	NP_001280033.1:p.Gln361Lys
NM_001293105.1:c.994C>A	NP_001280034.1:p.Gln332Lys
NR_120531.1:n.1697C>A
XM_005250297.3:c.1498C>A	XP_005250354.1:p.Gln500Lys
XM_011516113.1:c.1150C>A	XP_011514415.1:p.Gln384Lys
XM_011516114.1:c.979C>A	XP_011514416.1:p.Gln327Lys
XR_927461.1:n.1737C>A
XM_005250297.4:c.1498C>A	XP_005250354.1:p.Gln500Lys
XM_011516114.2:c.979C>A	XP_011514416.1:p.Gln327Lys
XM_017012091.1:c.997C>A	XP_016867580.1:p.Gln333Lys
XM_017012092.1:c.928C>A	XP_016867581.1:p.Gln310Lys
XM_017012093.2:c.826C>A	XP_016867582.1:p.Gln276Lys
XR_001744658.2:n.1458C>A
XR_001744659.2:n.1571C>A
XR_001744660.2:n.1503C>A
XR_001744661.2:n.1418C>A
XR_927461.3:n.1656C>A
NM_000181.4:c.1651C>A MANE Select	NP_000172.2:p.Gln551Lys
NM_001284290.2:c.1213C>A	NP_001271219.1:p.Gln405Lys
NM_001293104.2:c.1081C>A	NP_001280033.1:p.Gln361Lys
NM_001293105.2:c.994C>A	NP_001280034.1:p.Gln332Lys
NR_120531.2:n.1596C>A