Canonical Allele Identifier: CA575259322

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2110954
• ClinVar RCV Id: RCV003020374
• dbSNP Id: rs1439749452
• gnomAD v2: 7-65446956-C-T
• gnomAD v4: 7-65981969-C-T
• MyVariant Identifiers: chr7:g.65446956C>T (hg19) ; chr7:g.65981969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65981969C>T , CM000669.2:g.65981969C>T	GRCh38
NC_000007.13:g.65446956C>T , CM000669.1:g.65446956C>T	GRCh37
NC_000007.12:g.65084391C>T	NCBI36
NG_016197.1:g.5346G>A

Transcript Alleles

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