Canonical Allele Identifier: CA455442887

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432874G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967887G>A , CM000669.2:g.65967887G>A	GRCh38
NC_000007.13:g.65432874G>A , CM000669.1:g.65432874G>A	GRCh37
NC_000007.12:g.65070309G>A	NCBI36
NG_016197.1:g.19428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1497C>T MANE Select	ENSP00000302728.4:p.Ile499=
ENST00000304895.8:c.1497C>T	ENSP00000302728.4:p.Ile499=
ENST00000421103.5:c.1059C>T	ENSP00000391390.1:p.Ile353=
ENST00000430730.5:c.*764C>T	ENSP00000411859.1:n.*764C>T
ENST00000447929.5:c.*877C>T	ENSP00000411262.1:n.*877C>T
ENST00000461622.1:n.22C>T
ENST00000462371.1:n.535C>T
ENST00000466883.5:n.1887C>T
NM_000181.3:c.1497C>T	NP_000172.2:p.Ile499=
NM_001284290.1:c.1059C>T	NP_001271219.1:p.Ile353=
NM_001293104.1:c.927C>T	NP_001280033.1:p.Ile309=
NM_001293105.1:c.840C>T	NP_001280034.1:p.Ile280=
NR_120531.1:n.1543C>T
XM_005250297.3:c.1344C>T	XP_005250354.1:p.Ile448=
XM_011516113.1:c.996C>T	XP_011514415.1:p.Ile332=
XM_011516114.1:c.825C>T	XP_011514416.1:p.Ile275=
XR_927461.1:n.1583C>T
XM_005250297.4:c.1344C>T	XP_005250354.1:p.Ile448=
XM_011516114.2:c.825C>T	XP_011514416.1:p.Ile275=
XM_017012091.1:c.843C>T	XP_016867580.1:p.Ile281=
XM_017012092.1:c.774C>T	XP_016867581.1:p.Ile258=
XM_017012093.2:c.672C>T	XP_016867582.1:p.Ile224=
XR_001744658.2:n.1304C>T
XR_001744659.2:n.1417C>T
XR_001744660.2:n.1349C>T
XR_001744661.2:n.1264C>T
XR_927461.3:n.1502C>T
NM_000181.4:c.1497C>T MANE Select	NP_000172.2:p.Ile499=
NM_001284290.2:c.1059C>T	NP_001271219.1:p.Ile353=
NM_001293104.2:c.927C>T	NP_001280033.1:p.Ile309=
NM_001293105.2:c.840C>T	NP_001280034.1:p.Ile280=
NR_120531.2:n.1442C>T