Canonical Allele Identifier: CA455440189

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961029-G-A
• MyVariant Identifiers: chr7:g.65426016G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961029G>A , CM000669.2:g.65961029G>A	GRCh38
NC_000007.13:g.65426016G>A , CM000669.1:g.65426016G>A	GRCh37
NC_000007.12:g.65063451G>A	NCBI36
NG_016197.1:g.26286C>T
NG_051954.1:g.92931G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1824C>T MANE Select	ENSP00000302728.4:p.Ile608=
ENST00000304895.8:c.1824C>T	ENSP00000302728.4:p.Ile608=
ENST00000421103.5:c.1386C>T	ENSP00000391390.1:p.Ile462=
ENST00000430730.5:c.*1091C>T	ENSP00000411859.1:n.*1091C>T
ENST00000447929.5:c.*1204C>T	ENSP00000411262.1:n.*1204C>T
ENST00000466883.5:n.2214C>T
NM_000181.3:c.1824C>T	NP_000172.2:p.Ile608=
NM_001284290.1:c.1386C>T	NP_001271219.1:p.Ile462=
NM_001293104.1:c.1254C>T	NP_001280033.1:p.Ile418=
NM_001293105.1:c.1167C>T	NP_001280034.1:p.Ile389=
NR_120531.1:n.1870C>T
XM_005250297.3:c.1671C>T	XP_005250354.1:p.Ile557=
XM_011516113.1:c.1323C>T	XP_011514415.1:p.Ile441=
XM_011516114.1:c.1152C>T	XP_011514416.1:p.Ile384=
XM_005250297.4:c.1671C>T	XP_005250354.1:p.Ile557=
XM_011516114.2:c.1152C>T	XP_011514416.1:p.Ile384=
XM_017012091.1:c.1170C>T	XP_016867580.1:p.Ile390=
XM_017012092.1:c.1101C>T	XP_016867581.1:p.Ile367=
XM_017012093.2:c.999C>T	XP_016867582.1:p.Ile333=
XR_001744658.2:n.1631C>T
XR_001744659.2:n.1744C>T
XR_001744660.2:n.1676C>T
XR_001744661.2:n.1591C>T
XR_927461.3:n.1829C>T
NM_000181.4:c.1824C>T MANE Select	NP_000172.2:p.Ile608=
NM_001284290.2:c.1386C>T	NP_001271219.1:p.Ile462=
NM_001293104.2:c.1254C>T	NP_001280033.1:p.Ile418=
NM_001293105.2:c.1167C>T	NP_001280034.1:p.Ile389=
NR_120531.2:n.1769C>T