Canonical Allele Identifier: CA4276429

Gene: GUSB

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974996C>A , CM000669.2:g.65974996C>A	GRCh38
NC_000007.13:g.65439983C>A , CM000669.1:g.65439983C>A	GRCh37
NC_000007.12:g.65077418C>A	NCBI36
NG_016197.1:g.12319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.988G>T MANE Select	ENSP00000302728.4:p.Ala330Ser
ENST00000304895.8:c.988G>T	ENSP00000302728.4:p.Ala330Ser
ENST00000421103.5:c.550G>T	ENSP00000391390.1:p.Ala184Ser
ENST00000430730.5:c.*255G>T	ENSP00000411859.1:n.*255G>T
ENST00000447929.5:c.*368G>T	ENSP00000411262.1:n.*368G>T
ENST00000465785.5:n.299-292G>T
ENST00000466883.5:n.1165G>T
ENST00000475316.5:n.304-292G>T
ENST00000479038.1:n.189-292G>T
ENST00000489482.1:n.11G>T
NM_000181.3:c.988G>T	NP_000172.2:p.Ala330Ser
NM_001284290.1:c.550G>T	NP_001271219.1:p.Ala184Ser
NM_001293104.1:c.418G>T	NP_001280033.1:p.Ala140Ser
NM_001293105.1:c.331G>T	NP_001280034.1:p.Ala111Ser
NR_120531.1:n.1119G>T
XM_005250297.3:c.913-292G>T	XP_005250354.1:n.913-292G>T
XM_011516113.1:c.487G>T	XP_011514415.1:p.Ala163Ser
XM_011516114.1:c.316G>T	XP_011514416.1:p.Ala106Ser
XR_927461.1:n.1114G>T
XM_005250297.4:c.913-292G>T	XP_005250354.1:n.913-292G>T
XM_011516114.2:c.316G>T	XP_011514416.1:p.Ala106Ser
XM_017012091.1:c.412-292G>T	XP_016867580.1:n.412-292G>T
XM_017012092.1:c.343-292G>T	XP_016867581.1:n.343-292G>T
XM_017012093.2:c.241-292G>T	XP_016867582.1:n.241-292G>T
XR_001744658.2:n.958-292G>T
XR_001744659.2:n.1033G>T
XR_001744660.2:n.958-292G>T
XR_001744661.2:n.958-292G>T
XR_927461.3:n.1033G>T
NM_000181.4:c.988G>T MANE Select	NP_000172.2:p.Ala330Ser
NM_001284290.2:c.550G>T	NP_001271219.1:p.Ala184Ser
NM_001293104.2:c.418G>T	NP_001280033.1:p.Ala140Ser
NM_001293105.2:c.331G>T	NP_001280034.1:p.Ala111Ser
NR_120531.2:n.1018G>T