Canonical Allele Identifier: CA367637295

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425970C>T (hg19) ; chr7:g.65960983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960983C>T , CM000669.2:g.65960983C>T	GRCh38
NC_000007.13:g.65425970C>T , CM000669.1:g.65425970C>T	GRCh37
NC_000007.12:g.65063405C>T	NCBI36
NG_016197.1:g.26332G>A
NG_051954.1:g.92885C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1870G>A MANE Select	ENSP00000302728.4:p.Glu624Lys
ENST00000304895.8:c.1870G>A	ENSP00000302728.4:p.Glu624Lys
ENST00000421103.5:c.1432G>A	ENSP00000391390.1:p.Glu478Lys
ENST00000430730.5:c.*1137G>A	ENSP00000411859.1:n.*1137G>A
ENST00000447929.5:c.*1250G>A	ENSP00000411262.1:n.*1250G>A
ENST00000466883.5:n.2260G>A
NM_000181.3:c.1870G>A	NP_000172.2:p.Glu624Lys
NM_001284290.1:c.1432G>A	NP_001271219.1:p.Glu478Lys
NM_001293104.1:c.1300G>A	NP_001280033.1:p.Glu434Lys
NM_001293105.1:c.1213G>A	NP_001280034.1:p.Glu405Lys
NR_120531.1:n.1916G>A
XM_005250297.3:c.1717G>A	XP_005250354.1:p.Glu573Lys
XM_011516113.1:c.1369G>A	XP_011514415.1:p.Glu457Lys
XM_011516114.1:c.1198G>A	XP_011514416.1:p.Glu400Lys
XM_005250297.4:c.1717G>A	XP_005250354.1:p.Glu573Lys
XM_011516114.2:c.1198G>A	XP_011514416.1:p.Glu400Lys
XM_017012091.1:c.1216G>A	XP_016867580.1:p.Glu406Lys
XM_017012092.1:c.1147G>A	XP_016867581.1:p.Glu383Lys
XM_017012093.2:c.1045G>A	XP_016867582.1:p.Glu349Lys
XR_001744658.2:n.1677G>A
XR_001744659.2:n.1790G>A
XR_001744660.2:n.1722G>A
XR_001744661.2:n.1637G>A
XR_927461.3:n.1875G>A
NM_000181.4:c.1870G>A MANE Select	NP_000172.2:p.Glu624Lys
NM_001284290.2:c.1432G>A	NP_001271219.1:p.Glu478Lys
NM_001293104.2:c.1300G>A	NP_001280033.1:p.Glu434Lys
NM_001293105.2:c.1213G>A	NP_001280034.1:p.Glu405Lys
NR_120531.2:n.1815G>A