Canonical Allele Identifier: CA367636944

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425892A>G (hg19) ; chr7:g.65960905A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960905A>G , CM000669.2:g.65960905A>G	GRCh38
NC_000007.13:g.65425892A>G , CM000669.1:g.65425892A>G	GRCh37
NC_000007.12:g.65063327A>G	NCBI36
NG_016197.1:g.26410T>C
NG_051954.1:g.92807A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1948T>C MANE Select	ENSP00000302728.4:p.Phe650Leu
ENST00000304895.8:c.1948T>C	ENSP00000302728.4:p.Phe650Leu
ENST00000421103.5:c.1510T>C	ENSP00000391390.1:p.Phe504Leu
ENST00000430730.5:c.*1215T>C	ENSP00000411859.1:n.*1215T>C
ENST00000447929.5:c.*1328T>C	ENSP00000411262.1:n.*1328T>C
ENST00000466883.5:n.2338T>C
NM_000181.3:c.1948T>C	NP_000172.2:p.Phe650Leu
NM_001284290.1:c.1510T>C	NP_001271219.1:p.Phe504Leu
NM_001293104.1:c.1378T>C	NP_001280033.1:p.Phe460Leu
NM_001293105.1:c.1291T>C	NP_001280034.1:p.Phe431Leu
NR_120531.1:n.1994T>C
XM_005250297.3:c.1795T>C	XP_005250354.1:p.Phe599Leu
XM_011516113.1:c.1447T>C	XP_011514415.1:p.Phe483Leu
XM_011516114.1:c.1276T>C	XP_011514416.1:p.Phe426Leu
XM_005250297.4:c.1795T>C	XP_005250354.1:p.Phe599Leu
XM_011516114.2:c.1276T>C	XP_011514416.1:p.Phe426Leu
XM_017012091.1:c.1294T>C	XP_016867580.1:p.Phe432Leu
XM_017012092.1:c.1225T>C	XP_016867581.1:p.Phe409Leu
XM_017012093.2:c.1123T>C	XP_016867582.1:p.Phe375Leu
XR_001744658.2:n.1755T>C
XR_001744659.2:n.1868T>C
XR_001744660.2:n.1800T>C
XR_001744661.2:n.1715T>C
XR_927461.3:n.1953T>C
NM_000181.4:c.1948T>C MANE Select	NP_000172.2:p.Phe650Leu
NM_001284290.2:c.1510T>C	NP_001271219.1:p.Phe504Leu
NM_001293104.2:c.1378T>C	NP_001280033.1:p.Phe460Leu
NM_001293105.2:c.1291T>C	NP_001280034.1:p.Phe431Leu
NR_120531.2:n.1893T>C