Canonical Allele Identifier: CA455442432

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432718C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967731C>T , CM000669.2:g.65967731C>T	GRCh38
NC_000007.13:g.65432718C>T , CM000669.1:g.65432718C>T	GRCh37
NC_000007.12:g.65070153C>T	NCBI36
NG_016197.1:g.19584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1653G>A MANE Select	ENSP00000302728.4:p.Gln551=
ENST00000304895.8:c.1653G>A	ENSP00000302728.4:p.Gln551=
ENST00000421103.5:c.1215G>A	ENSP00000391390.1:p.Gln405=
ENST00000430730.5:c.*920G>A	ENSP00000411859.1:n.*920G>A
ENST00000447929.5:c.*1033G>A	ENSP00000411262.1:n.*1033G>A
ENST00000461622.1:n.178G>A
ENST00000462371.1:n.691G>A
ENST00000466883.5:n.2043G>A
NM_000181.3:c.1653G>A	NP_000172.2:p.Gln551=
NM_001284290.1:c.1215G>A	NP_001271219.1:p.Gln405=
NM_001293104.1:c.1083G>A	NP_001280033.1:p.Gln361=
NM_001293105.1:c.996G>A	NP_001280034.1:p.Gln332=
NR_120531.1:n.1699G>A
XM_005250297.3:c.1500G>A	XP_005250354.1:p.Gln500=
XM_011516113.1:c.1152G>A	XP_011514415.1:p.Gln384=
XM_011516114.1:c.981G>A	XP_011514416.1:p.Gln327=
XR_927461.1:n.1739G>A
XM_005250297.4:c.1500G>A	XP_005250354.1:p.Gln500=
XM_011516114.2:c.981G>A	XP_011514416.1:p.Gln327=
XM_017012091.1:c.999G>A	XP_016867580.1:p.Gln333=
XM_017012092.1:c.930G>A	XP_016867581.1:p.Gln310=
XM_017012093.2:c.828G>A	XP_016867582.1:p.Gln276=
XR_001744658.2:n.1460G>A
XR_001744659.2:n.1573G>A
XR_001744660.2:n.1505G>A
XR_001744661.2:n.1420G>A
XR_927461.3:n.1658G>A
NM_000181.4:c.1653G>A MANE Select	NP_000172.2:p.Gln551=
NM_001284290.2:c.1215G>A	NP_001271219.1:p.Gln405=
NM_001293104.2:c.1083G>A	NP_001280033.1:p.Gln361=
NM_001293105.2:c.996G>A	NP_001280034.1:p.Gln332=
NR_120531.2:n.1598G>A