Canonical Allele Identifier: CA4276354

Gene: GUSB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974548G>A , CM000669.2:g.65974548G>A	GRCh38
NC_000007.13:g.65439535G>A , CM000669.1:g.65439535G>A	GRCh37
NC_000007.12:g.65076970G>A	NCBI36
NG_016197.1:g.12767C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1222C>T MANE Select	ENSP00000302728.4:p.Pro408Ser
ENST00000304895.8:c.1222C>T	ENSP00000302728.4:p.Pro408Ser
ENST00000421103.5:c.784C>T	ENSP00000391390.1:p.Pro262Ser
ENST00000430730.5:c.*489C>T	ENSP00000411859.1:n.*489C>T
ENST00000447929.5:c.*602C>T	ENSP00000411262.1:n.*602C>T
ENST00000462371.1:n.300C>T
ENST00000465785.5:n.455C>T
ENST00000466883.5:n.1613C>T
ENST00000475316.5:n.460C>T
ENST00000479038.1:n.345C>T
ENST00000489482.1:n.459C>T
NM_000181.3:c.1222C>T	NP_000172.2:p.Pro408Ser
NM_001284290.1:c.784C>T	NP_001271219.1:p.Pro262Ser
NM_001293104.1:c.652C>T	NP_001280033.1:p.Pro218Ser
NM_001293105.1:c.565C>T	NP_001280034.1:p.Pro189Ser
NR_120531.1:n.1353C>T
XM_005250297.3:c.1069C>T	XP_005250354.1:p.Pro357Ser
XM_011516113.1:c.721C>T	XP_011514415.1:p.Pro241Ser
XM_011516114.1:c.550C>T	XP_011514416.1:p.Pro184Ser
XR_927461.1:n.1348C>T
XM_005250297.4:c.1069C>T	XP_005250354.1:p.Pro357Ser
XM_011516114.2:c.550C>T	XP_011514416.1:p.Pro184Ser
XM_017012091.1:c.568C>T	XP_016867580.1:p.Pro190Ser
XM_017012092.1:c.499C>T	XP_016867581.1:p.Pro167Ser
XM_017012093.2:c.397C>T	XP_016867582.1:p.Pro133Ser
XR_001744658.2:n.1114C>T
XR_001744659.2:n.1267C>T
XR_001744660.2:n.1114C>T
XR_001744661.2:n.1114C>T
XR_927461.3:n.1267C>T
NM_000181.4:c.1222C>T MANE Select	NP_000172.2:p.Pro408Ser
NM_001284290.2:c.784C>T	NP_001271219.1:p.Pro262Ser
NM_001293104.2:c.652C>T	NP_001280033.1:p.Pro218Ser
NM_001293105.2:c.565C>T	NP_001280034.1:p.Pro189Ser
NR_120531.2:n.1252C>T