Canonical Allele Identifier: CA10629335

Gene: GUSB

Linked Data

• ClinVar Variation Id: 360555
• ClinVar RCV Id: RCV000271073
• dbSNP Id: rs886062403
• gnomAD v3: 7-65981963-C-G
• gnomAD v4: 7-65981963-C-G
• MyVariant Identifiers: chr7:g.65446950C>G (hg19) ; chr7:g.65981963C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65981963C>G , CM000669.2:g.65981963C>G	GRCh38
NC_000007.13:g.65446950C>G , CM000669.1:g.65446950C>G	GRCh37
NC_000007.12:g.65084385C>G	NCBI36
NG_016197.1:g.5352G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.210+11G>C MANE Select	ENSP00000302728.4:n.210+11G>C
ENST00000304895.8:c.210+11G>C	ENSP00000302728.4:n.210+11G>C
ENST00000421103.5:c.210+11G>C	ENSP00000391390.1:n.210+11G>C
ENST00000430730.5:c.210+11G>C	ENSP00000411859.1:n.210+11G>C
ENST00000446111.1:c.210+11G>C	ENSP00000416793.1:n.210+11G>C
ENST00000447929.5:c.210+11G>C	ENSP00000411262.1:n.210+11G>C
ENST00000475316.5:n.115+11G>C
ENST00000476486.5:n.9G>C
NM_000181.3:c.210+11G>C	NP_000172.2:n.210+11G>C
NM_001284290.1:c.210+11G>C	NP_001271219.1:n.210+11G>C
NM_001293104.1:c.-176+11G>C	NP_001280033.1:n.-176+11G>C
NM_001293105.1:c.-120+11G>C	NP_001280034.1:n.-120+11G>C
NR_120531.1:n.341+11G>C
XM_005250297.3:c.210+11G>C	XP_005250354.1:n.210+11G>C
XM_011516113.1:c.-120+11G>C	XP_011514415.1:n.-120+11G>C
XR_927461.1:n.336+11G>C
XM_005250297.4:c.210+11G>C	XP_005250354.1:n.210+11G>C
XM_011516114.2:c.-476+11G>C	XP_011514416.1:n.-476+11G>C
XM_017012091.1:c.-120+11G>C	XP_016867580.1:n.-120+11G>C
XM_017012092.1:c.-176+11G>C	XP_016867581.1:n.-176+11G>C
XM_017012093.2:c.-476+11G>C	XP_016867582.1:n.-476+11G>C
XR_001744658.2:n.255+11G>C
XR_001744659.2:n.255+11G>C
XR_001744660.2:n.255+11G>C
XR_001744661.2:n.255+11G>C
XR_927461.3:n.255+11G>C
NM_000181.4:c.210+11G>C MANE Select	NP_000172.2:n.210+11G>C
NM_001284290.2:c.210+11G>C	NP_001271219.1:n.210+11G>C
NM_001293104.2:c.-176+11G>C	NP_001280033.1:n.-176+11G>C
NM_001293105.2:c.-120+11G>C	NP_001280034.1:n.-120+11G>C
NR_120531.2:n.240+11G>C