Canonical Allele Identifier: CA367637038

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425912T>G (hg19) ; chr7:g.65960925T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960925T>G , CM000669.2:g.65960925T>G	GRCh38
NC_000007.13:g.65425912T>G , CM000669.1:g.65425912T>G	GRCh37
NC_000007.12:g.65063347T>G	NCBI36
NG_016197.1:g.26390A>C
NG_051954.1:g.92827T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1928A>C MANE Select	ENSP00000302728.4:p.Gln643Pro
ENST00000304895.8:c.1928A>C	ENSP00000302728.4:p.Gln643Pro
ENST00000421103.5:c.1490A>C	ENSP00000391390.1:p.Gln497Pro
ENST00000430730.5:c.*1195A>C	ENSP00000411859.1:n.*1195A>C
ENST00000447929.5:c.*1308A>C	ENSP00000411262.1:n.*1308A>C
ENST00000466883.5:n.2318A>C
NM_000181.3:c.1928A>C	NP_000172.2:p.Gln643Pro
NM_001284290.1:c.1490A>C	NP_001271219.1:p.Gln497Pro
NM_001293104.1:c.1358A>C	NP_001280033.1:p.Gln453Pro
NM_001293105.1:c.1271A>C	NP_001280034.1:p.Gln424Pro
NR_120531.1:n.1974A>C
XM_005250297.3:c.1775A>C	XP_005250354.1:p.Gln592Pro
XM_011516113.1:c.1427A>C	XP_011514415.1:p.Gln476Pro
XM_011516114.1:c.1256A>C	XP_011514416.1:p.Gln419Pro
XM_005250297.4:c.1775A>C	XP_005250354.1:p.Gln592Pro
XM_011516114.2:c.1256A>C	XP_011514416.1:p.Gln419Pro
XM_017012091.1:c.1274A>C	XP_016867580.1:p.Gln425Pro
XM_017012092.1:c.1205A>C	XP_016867581.1:p.Gln402Pro
XM_017012093.2:c.1103A>C	XP_016867582.1:p.Gln368Pro
XR_001744658.2:n.1735A>C
XR_001744659.2:n.1848A>C
XR_001744660.2:n.1780A>C
XR_001744661.2:n.1695A>C
XR_927461.3:n.1933A>C
NM_000181.4:c.1928A>C MANE Select	NP_000172.2:p.Gln643Pro
NM_001284290.2:c.1490A>C	NP_001271219.1:p.Gln497Pro
NM_001293104.2:c.1358A>C	NP_001280033.1:p.Gln453Pro
NM_001293105.2:c.1271A>C	NP_001280034.1:p.Gln424Pro
NR_120531.2:n.1873A>C