Canonical Allele Identifier: CA1713864995

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2831343
• ClinVar RCV Id: RCV003602086
• dbSNP Id: rs1790942050

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967916A>G , CM000669.2:g.65967916A>G	GRCh38
NC_000007.13:g.65432903A>G , CM000669.1:g.65432903A>G	GRCh37
NC_000007.12:g.65070338A>G	NCBI36
NG_016197.1:g.19399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1477-9T>C MANE Select	ENSP00000302728.4:n.1477-9T>C
ENST00000304895.8:c.1477-9T>C	ENSP00000302728.4:n.1477-9T>C
ENST00000421103.5:c.1039-9T>C	ENSP00000391390.1:n.1039-9T>C
ENST00000430730.5:c.*744-9T>C	ENSP00000411859.1:n.*744-9T>C
ENST00000447929.5:c.*857-9T>C	ENSP00000411262.1:n.*857-9T>C
ENST00000462371.1:n.515-9T>C
ENST00000466883.5:n.1867-9T>C
NM_000181.3:c.1477-9T>C	NP_000172.2:n.1477-9T>C
NM_001284290.1:c.1039-9T>C	NP_001271219.1:n.1039-9T>C
NM_001293104.1:c.907-9T>C	NP_001280033.1:n.907-9T>C
NM_001293105.1:c.820-9T>C	NP_001280034.1:n.820-9T>C
NR_120531.1:n.1523-9T>C
XM_005250297.3:c.1324-9T>C	XP_005250354.1:n.1324-9T>C
XM_011516113.1:c.976-9T>C	XP_011514415.1:n.976-9T>C
XM_011516114.1:c.805-9T>C	XP_011514416.1:n.805-9T>C
XR_927461.1:n.1563-9T>C
XM_005250297.4:c.1324-9T>C	XP_005250354.1:n.1324-9T>C
XM_011516114.2:c.805-9T>C	XP_011514416.1:n.805-9T>C
XM_017012091.1:c.823-9T>C	XP_016867580.1:n.823-9T>C
XM_017012092.1:c.754-9T>C	XP_016867581.1:n.754-9T>C
XM_017012093.2:c.652-9T>C	XP_016867582.1:n.652-9T>C
XR_001744658.2:n.1284-9T>C
XR_001744659.2:n.1397-9T>C
XR_001744660.2:n.1329-9T>C
XR_001744661.2:n.1244-9T>C
XR_927461.3:n.1482-9T>C
NM_000181.4:c.1477-9T>C MANE Select	NP_000172.2:n.1477-9T>C
NM_001284290.2:c.1039-9T>C	NP_001271219.1:n.1039-9T>C
NM_001293104.2:c.907-9T>C	NP_001280033.1:n.907-9T>C
NM_001293105.2:c.820-9T>C	NP_001280034.1:n.820-9T>C
NR_120531.2:n.1422-9T>C