Canonical Allele Identifier: CA367637191

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425948T>A (hg19) ; chr7:g.65960961T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960961T>A , CM000669.2:g.65960961T>A	GRCh38
NC_000007.13:g.65425948T>A , CM000669.1:g.65425948T>A	GRCh37
NC_000007.12:g.65063383T>A	NCBI36
NG_016197.1:g.26354A>T
NG_051954.1:g.92863T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1892A>T MANE Select	ENSP00000302728.4:p.Asn631Ile
ENST00000304895.8:c.1892A>T	ENSP00000302728.4:p.Asn631Ile
ENST00000421103.5:c.1454A>T	ENSP00000391390.1:p.Asn485Ile
ENST00000430730.5:c.*1159A>T	ENSP00000411859.1:n.*1159A>T
ENST00000447929.5:c.*1272A>T	ENSP00000411262.1:n.*1272A>T
ENST00000466883.5:n.2282A>T
NM_000181.3:c.1892A>T	NP_000172.2:p.Asn631Ile
NM_001284290.1:c.1454A>T	NP_001271219.1:p.Asn485Ile
NM_001293104.1:c.1322A>T	NP_001280033.1:p.Asn441Ile
NM_001293105.1:c.1235A>T	NP_001280034.1:p.Asn412Ile
NR_120531.1:n.1938A>T
XM_005250297.3:c.1739A>T	XP_005250354.1:p.Asn580Ile
XM_011516113.1:c.1391A>T	XP_011514415.1:p.Asn464Ile
XM_011516114.1:c.1220A>T	XP_011514416.1:p.Asn407Ile
XM_005250297.4:c.1739A>T	XP_005250354.1:p.Asn580Ile
XM_011516114.2:c.1220A>T	XP_011514416.1:p.Asn407Ile
XM_017012091.1:c.1238A>T	XP_016867580.1:p.Asn413Ile
XM_017012092.1:c.1169A>T	XP_016867581.1:p.Asn390Ile
XM_017012093.2:c.1067A>T	XP_016867582.1:p.Asn356Ile
XR_001744658.2:n.1699A>T
XR_001744659.2:n.1812A>T
XR_001744660.2:n.1744A>T
XR_001744661.2:n.1659A>T
XR_927461.3:n.1897A>T
NM_000181.4:c.1892A>T MANE Select	NP_000172.2:p.Asn631Ile
NM_001284290.2:c.1454A>T	NP_001271219.1:p.Asn485Ile
NM_001293104.2:c.1322A>T	NP_001280033.1:p.Asn441Ile
NM_001293105.2:c.1235A>T	NP_001280034.1:p.Asn412Ile
NR_120531.2:n.1837A>T