Canonical Allele Identifier: CA367637064

Gene: GUSB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1921A>T MANE Select	ENSP00000302728.4:p.Lys641Ter
ENST00000304895.8:c.1921A>T	ENSP00000302728.4:p.Lys641Ter
ENST00000421103.5:c.1483A>T	ENSP00000391390.1:p.Lys495Ter
ENST00000430730.5:c.*1188A>T	ENSP00000411859.1:n.*1188A>T
ENST00000447929.5:c.*1301A>T	ENSP00000411262.1:n.*1301A>T
ENST00000466883.5:n.2311A>T
NM_000181.3:c.1921A>T	NP_000172.2:p.Lys641Ter
NM_001284290.1:c.1483A>T	NP_001271219.1:p.Lys495Ter
NM_001293104.1:c.1351A>T	NP_001280033.1:p.Lys451Ter
NM_001293105.1:c.1264A>T	NP_001280034.1:p.Lys422Ter
NR_120531.1:n.1967A>T
XM_005250297.3:c.1768A>T	XP_005250354.1:p.Lys590Ter
XM_011516113.1:c.1420A>T	XP_011514415.1:p.Lys474Ter
XM_011516114.1:c.1249A>T	XP_011514416.1:p.Lys417Ter
XM_005250297.4:c.1768A>T	XP_005250354.1:p.Lys590Ter
XM_011516114.2:c.1249A>T	XP_011514416.1:p.Lys417Ter
XM_017012091.1:c.1267A>T	XP_016867580.1:p.Lys423Ter
XM_017012092.1:c.1198A>T	XP_016867581.1:p.Lys400Ter
XM_017012093.2:c.1096A>T	XP_016867582.1:p.Lys366Ter
XR_001744658.2:n.1728A>T
XR_001744659.2:n.1841A>T
XR_001744660.2:n.1773A>T
XR_001744661.2:n.1688A>T
XR_927461.3:n.1926A>T
NM_000181.4:c.1921A>T MANE Select	NP_000172.2:p.Lys641Ter
NM_001284290.2:c.1483A>T	NP_001271219.1:p.Lys495Ter
NM_001293104.2:c.1351A>T	NP_001280033.1:p.Lys451Ter
NM_001293105.2:c.1264A>T	NP_001280034.1:p.Lys422Ter
NR_120531.2:n.1866A>T