Canonical Allele Identifier: CA367640237

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967844-G-C
• MyVariant Identifiers: chr7:g.65432831G>C (hg19) ; chr7:g.65967844G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967844G>C , CM000669.2:g.65967844G>C	GRCh38
NC_000007.13:g.65432831G>C , CM000669.1:g.65432831G>C	GRCh37
NC_000007.12:g.65070266G>C	NCBI36
NG_016197.1:g.19471C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1540C>G MANE Select	ENSP00000302728.4:p.Leu514Val
ENST00000304895.8:c.1540C>G	ENSP00000302728.4:p.Leu514Val
ENST00000421103.5:c.1102C>G	ENSP00000391390.1:p.Leu368Val
ENST00000430730.5:c.*807C>G	ENSP00000411859.1:n.*807C>G
ENST00000447929.5:c.*920C>G	ENSP00000411262.1:n.*920C>G
ENST00000461622.1:n.65C>G
ENST00000462371.1:n.578C>G
ENST00000466883.5:n.1930C>G
NM_000181.3:c.1540C>G	NP_000172.2:p.Leu514Val
NM_001284290.1:c.1102C>G	NP_001271219.1:p.Leu368Val
NM_001293104.1:c.970C>G	NP_001280033.1:p.Leu324Val
NM_001293105.1:c.883C>G	NP_001280034.1:p.Leu295Val
NR_120531.1:n.1586C>G
XM_005250297.3:c.1387C>G	XP_005250354.1:p.Leu463Val
XM_011516113.1:c.1039C>G	XP_011514415.1:p.Leu347Val
XM_011516114.1:c.868C>G	XP_011514416.1:p.Leu290Val
XR_927461.1:n.1626C>G
XM_005250297.4:c.1387C>G	XP_005250354.1:p.Leu463Val
XM_011516114.2:c.868C>G	XP_011514416.1:p.Leu290Val
XM_017012091.1:c.886C>G	XP_016867580.1:p.Leu296Val
XM_017012092.1:c.817C>G	XP_016867581.1:p.Leu273Val
XM_017012093.2:c.715C>G	XP_016867582.1:p.Leu239Val
XR_001744658.2:n.1347C>G
XR_001744659.2:n.1460C>G
XR_001744660.2:n.1392C>G
XR_001744661.2:n.1307C>G
XR_927461.3:n.1545C>G
NM_000181.4:c.1540C>G MANE Select	NP_000172.2:p.Leu514Val
NM_001284290.2:c.1102C>G	NP_001271219.1:p.Leu368Val
NM_001293104.2:c.970C>G	NP_001280033.1:p.Leu324Val
NM_001293105.2:c.883C>G	NP_001280034.1:p.Leu295Val
NR_120531.2:n.1485C>G