Canonical Allele Identifier: CA367637066

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425919T>C (hg19) ; chr7:g.65960932T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960932T>C , CM000669.2:g.65960932T>C	GRCh38
NC_000007.13:g.65425919T>C , CM000669.1:g.65425919T>C	GRCh37
NC_000007.12:g.65063354T>C	NCBI36
NG_016197.1:g.26383A>G
NG_051954.1:g.92834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1921A>G MANE Select	ENSP00000302728.4:p.Lys641Glu
ENST00000304895.8:c.1921A>G	ENSP00000302728.4:p.Lys641Glu
ENST00000421103.5:c.1483A>G	ENSP00000391390.1:p.Lys495Glu
ENST00000430730.5:c.*1188A>G	ENSP00000411859.1:n.*1188A>G
ENST00000447929.5:c.*1301A>G	ENSP00000411262.1:n.*1301A>G
ENST00000466883.5:n.2311A>G
NM_000181.3:c.1921A>G	NP_000172.2:p.Lys641Glu
NM_001284290.1:c.1483A>G	NP_001271219.1:p.Lys495Glu
NM_001293104.1:c.1351A>G	NP_001280033.1:p.Lys451Glu
NM_001293105.1:c.1264A>G	NP_001280034.1:p.Lys422Glu
NR_120531.1:n.1967A>G
XM_005250297.3:c.1768A>G	XP_005250354.1:p.Lys590Glu
XM_011516113.1:c.1420A>G	XP_011514415.1:p.Lys474Glu
XM_011516114.1:c.1249A>G	XP_011514416.1:p.Lys417Glu
XM_005250297.4:c.1768A>G	XP_005250354.1:p.Lys590Glu
XM_011516114.2:c.1249A>G	XP_011514416.1:p.Lys417Glu
XM_017012091.1:c.1267A>G	XP_016867580.1:p.Lys423Glu
XM_017012092.1:c.1198A>G	XP_016867581.1:p.Lys400Glu
XM_017012093.2:c.1096A>G	XP_016867582.1:p.Lys366Glu
XR_001744658.2:n.1728A>G
XR_001744659.2:n.1841A>G
XR_001744660.2:n.1773A>G
XR_001744661.2:n.1688A>G
XR_927461.3:n.1926A>G
NM_000181.4:c.1921A>G MANE Select	NP_000172.2:p.Lys641Glu
NM_001284290.2:c.1483A>G	NP_001271219.1:p.Lys495Glu
NM_001293104.2:c.1351A>G	NP_001280033.1:p.Lys451Glu
NM_001293105.2:c.1264A>G	NP_001280034.1:p.Lys422Glu
NR_120531.2:n.1866A>G