Canonical Allele Identifier: CA16605371

Gene: GUSB

Linked Data

• ClinVar Variation Id: 384509
• ClinVar RCV Id: RCV000422530
• dbSNP Id: rs1057521974
• gnomAD v4: 7-65974707-A-G
• MyVariant Identifiers: chr7:g.65439694A>G (hg19) ; chr7:g.65974707A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974707A>G , CM000669.2:g.65974707A>G	GRCh38
NC_000007.13:g.65439694A>G , CM000669.1:g.65439694A>G	GRCh37
NC_000007.12:g.65077129A>G	NCBI36
NG_016197.1:g.12608T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1066-3T>C MANE Select	ENSP00000302728.4:n.1066-3T>C
ENST00000304895.8:c.1066-3T>C	ENSP00000302728.4:n.1066-3T>C
ENST00000421103.5:c.628-3T>C	ENSP00000391390.1:n.628-3T>C
ENST00000430730.5:c.*333-3T>C	ENSP00000411859.1:n.*333-3T>C
ENST00000447929.5:c.*446-3T>C	ENSP00000411262.1:n.*446-3T>C
ENST00000462371.1:n.141T>C
ENST00000465785.5:n.299-3T>C
ENST00000466883.5:n.1454T>C
ENST00000475316.5:n.304-3T>C
ENST00000479038.1:n.189-3T>C
ENST00000489482.1:n.300T>C
NM_000181.3:c.1066-3T>C	NP_000172.2:n.1066-3T>C
NM_001284290.1:c.628-3T>C	NP_001271219.1:n.628-3T>C
NM_001293104.1:c.496-3T>C	NP_001280033.1:n.496-3T>C
NM_001293105.1:c.409-3T>C	NP_001280034.1:n.409-3T>C
NR_120531.1:n.1197-3T>C
XM_005250297.3:c.913-3T>C	XP_005250354.1:n.913-3T>C
XM_011516113.1:c.565-3T>C	XP_011514415.1:n.565-3T>C
XM_011516114.1:c.394-3T>C	XP_011514416.1:n.394-3T>C
XR_927461.1:n.1192-3T>C
XM_005250297.4:c.913-3T>C	XP_005250354.1:n.913-3T>C
XM_011516114.2:c.394-3T>C	XP_011514416.1:n.394-3T>C
XM_017012091.1:c.412-3T>C	XP_016867580.1:n.412-3T>C
XM_017012092.1:c.343-3T>C	XP_016867581.1:n.343-3T>C
XM_017012093.2:c.241-3T>C	XP_016867582.1:n.241-3T>C
XR_001744658.2:n.958-3T>C
XR_001744659.2:n.1111-3T>C
XR_001744660.2:n.958-3T>C
XR_001744661.2:n.958-3T>C
XR_927461.3:n.1111-3T>C
NM_000181.4:c.1066-3T>C MANE Select	NP_000172.2:n.1066-3T>C
NM_001284290.2:c.628-3T>C	NP_001271219.1:n.628-3T>C
NM_001293104.2:c.496-3T>C	NP_001280033.1:n.496-3T>C
NM_001293105.2:c.409-3T>C	NP_001280034.1:n.409-3T>C
NR_120531.2:n.1096-3T>C