Canonical Allele Identifier: CA367640168

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432815A>C (hg19) ; chr7:g.65967828A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967828A>C , CM000669.2:g.65967828A>C	GRCh38
NC_000007.13:g.65432815A>C , CM000669.1:g.65432815A>C	GRCh37
NC_000007.12:g.65070250A>C	NCBI36
NG_016197.1:g.19487T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1556T>G MANE Select	ENSP00000302728.4:p.Leu519Arg
ENST00000304895.8:c.1556T>G	ENSP00000302728.4:p.Leu519Arg
ENST00000421103.5:c.1118T>G	ENSP00000391390.1:p.Leu373Arg
ENST00000430730.5:c.*823T>G	ENSP00000411859.1:n.*823T>G
ENST00000447929.5:c.*936T>G	ENSP00000411262.1:n.*936T>G
ENST00000461622.1:n.81T>G
ENST00000462371.1:n.594T>G
ENST00000466883.5:n.1946T>G
NM_000181.3:c.1556T>G	NP_000172.2:p.Leu519Arg
NM_001284290.1:c.1118T>G	NP_001271219.1:p.Leu373Arg
NM_001293104.1:c.986T>G	NP_001280033.1:p.Leu329Arg
NM_001293105.1:c.899T>G	NP_001280034.1:p.Leu300Arg
NR_120531.1:n.1602T>G
XM_005250297.3:c.1403T>G	XP_005250354.1:p.Leu468Arg
XM_011516113.1:c.1055T>G	XP_011514415.1:p.Leu352Arg
XM_011516114.1:c.884T>G	XP_011514416.1:p.Leu295Arg
XR_927461.1:n.1642T>G
XM_005250297.4:c.1403T>G	XP_005250354.1:p.Leu468Arg
XM_011516114.2:c.884T>G	XP_011514416.1:p.Leu295Arg
XM_017012091.1:c.902T>G	XP_016867580.1:p.Leu301Arg
XM_017012092.1:c.833T>G	XP_016867581.1:p.Leu278Arg
XM_017012093.2:c.731T>G	XP_016867582.1:p.Leu244Arg
XR_001744658.2:n.1363T>G
XR_001744659.2:n.1476T>G
XR_001744660.2:n.1408T>G
XR_001744661.2:n.1323T>G
XR_927461.3:n.1561T>G
NM_000181.4:c.1556T>G MANE Select	NP_000172.2:p.Leu519Arg
NM_001284290.2:c.1118T>G	NP_001271219.1:p.Leu373Arg
NM_001293104.2:c.986T>G	NP_001280033.1:p.Leu329Arg
NM_001293105.2:c.899T>G	NP_001280034.1:p.Leu300Arg
NR_120531.2:n.1501T>G