Canonical Allele Identifier: CA367639958

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967787-G-C
• MyVariant Identifiers: chr7:g.65432774G>C (hg19) ; chr7:g.65967787G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967787G>C , CM000669.2:g.65967787G>C	GRCh38
NC_000007.13:g.65432774G>C , CM000669.1:g.65432774G>C	GRCh37
NC_000007.12:g.65070209G>C	NCBI36
NG_016197.1:g.19528C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1597C>G MANE Select	ENSP00000302728.4:p.Gln533Glu
ENST00000304895.8:c.1597C>G	ENSP00000302728.4:p.Gln533Glu
ENST00000421103.5:c.1159C>G	ENSP00000391390.1:p.Gln387Glu
ENST00000430730.5:c.*864C>G	ENSP00000411859.1:n.*864C>G
ENST00000447929.5:c.*977C>G	ENSP00000411262.1:n.*977C>G
ENST00000461622.1:n.122C>G
ENST00000462371.1:n.635C>G
ENST00000466883.5:n.1987C>G
NM_000181.3:c.1597C>G	NP_000172.2:p.Gln533Glu
NM_001284290.1:c.1159C>G	NP_001271219.1:p.Gln387Glu
NM_001293104.1:c.1027C>G	NP_001280033.1:p.Gln343Glu
NM_001293105.1:c.940C>G	NP_001280034.1:p.Gln314Glu
NR_120531.1:n.1643C>G
XM_005250297.3:c.1444C>G	XP_005250354.1:p.Gln482Glu
XM_011516113.1:c.1096C>G	XP_011514415.1:p.Gln366Glu
XM_011516114.1:c.925C>G	XP_011514416.1:p.Gln309Glu
XR_927461.1:n.1683C>G
XM_005250297.4:c.1444C>G	XP_005250354.1:p.Gln482Glu
XM_011516114.2:c.925C>G	XP_011514416.1:p.Gln309Glu
XM_017012091.1:c.943C>G	XP_016867580.1:p.Gln315Glu
XM_017012092.1:c.874C>G	XP_016867581.1:p.Gln292Glu
XM_017012093.2:c.772C>G	XP_016867582.1:p.Gln258Glu
XR_001744658.2:n.1404C>G
XR_001744659.2:n.1517C>G
XR_001744660.2:n.1449C>G
XR_001744661.2:n.1364C>G
XR_927461.3:n.1602C>G
NM_000181.4:c.1597C>G MANE Select	NP_000172.2:p.Gln533Glu
NM_001284290.2:c.1159C>G	NP_001271219.1:p.Gln387Glu
NM_001293104.2:c.1027C>G	NP_001280033.1:p.Gln343Glu
NM_001293105.2:c.940C>G	NP_001280034.1:p.Gln314Glu
NR_120531.2:n.1542C>G