Canonical Allele Identifier: CA367637044

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425913G>T (hg19) ; chr7:g.65960926G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960926G>T , CM000669.2:g.65960926G>T	GRCh38
NC_000007.13:g.65425913G>T , CM000669.1:g.65425913G>T	GRCh37
NC_000007.12:g.65063348G>T	NCBI36
NG_016197.1:g.26389C>A
NG_051954.1:g.92828G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1927C>A MANE Select	ENSP00000302728.4:p.Gln643Lys
ENST00000304895.8:c.1927C>A	ENSP00000302728.4:p.Gln643Lys
ENST00000421103.5:c.1489C>A	ENSP00000391390.1:p.Gln497Lys
ENST00000430730.5:c.*1194C>A	ENSP00000411859.1:n.*1194C>A
ENST00000447929.5:c.*1307C>A	ENSP00000411262.1:n.*1307C>A
ENST00000466883.5:n.2317C>A
NM_000181.3:c.1927C>A	NP_000172.2:p.Gln643Lys
NM_001284290.1:c.1489C>A	NP_001271219.1:p.Gln497Lys
NM_001293104.1:c.1357C>A	NP_001280033.1:p.Gln453Lys
NM_001293105.1:c.1270C>A	NP_001280034.1:p.Gln424Lys
NR_120531.1:n.1973C>A
XM_005250297.3:c.1774C>A	XP_005250354.1:p.Gln592Lys
XM_011516113.1:c.1426C>A	XP_011514415.1:p.Gln476Lys
XM_011516114.1:c.1255C>A	XP_011514416.1:p.Gln419Lys
XM_005250297.4:c.1774C>A	XP_005250354.1:p.Gln592Lys
XM_011516114.2:c.1255C>A	XP_011514416.1:p.Gln419Lys
XM_017012091.1:c.1273C>A	XP_016867580.1:p.Gln425Lys
XM_017012092.1:c.1204C>A	XP_016867581.1:p.Gln402Lys
XM_017012093.2:c.1102C>A	XP_016867582.1:p.Gln368Lys
XR_001744658.2:n.1734C>A
XR_001744659.2:n.1847C>A
XR_001744660.2:n.1779C>A
XR_001744661.2:n.1694C>A
XR_927461.3:n.1932C>A
NM_000181.4:c.1927C>A MANE Select	NP_000172.2:p.Gln643Lys
NM_001284290.2:c.1489C>A	NP_001271219.1:p.Gln497Lys
NM_001293104.2:c.1357C>A	NP_001280033.1:p.Gln453Lys
NM_001293105.2:c.1270C>A	NP_001280034.1:p.Gln424Lys
NR_120531.2:n.1872C>A