Canonical Allele Identifier: CA16041834
Gene: CTNS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371171
ClinVar RCV Id: RCV000410250

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3655103T>C , CM000679.2:g.3655103T>C GRCh38
NC_000017.10:g.3558397T>C , CM000679.1:g.3558397T>C GRCh37
NC_000017.9:g.3505146T>C NCBI36
NG_012489.1:g.23636T>C
NG_012489.2:g.23636T>C

Transcript Alleles

HGVS Amino-acid change
NM_001031681.2:c.329+2T>C VV NP_001026851.2:p.=
NM_004937.2:c.329+2T>C VV NP_004928.2:p.=
XM_005256485.1:c.329+2T>C XP_005256542.1:p.=
XM_006721463.1:c.329+2T>C XP_006721526.1:p.=
XM_006721464.1:c.-113+2T>C XP_006721527.1:p.=
XM_011523691.1:c.329+2T>C XP_011521993.1:p.=
XM_011523692.1:c.-113+2T>C XP_011521994.1:p.=
XR_934003.1:n.922+2T>C
XR_934158.1:n.1143+1753A>G
XR_934159.1:n.433+1753A>G
XR_934160.1:n.438+1753A>G
XR_934163.1:n.1034+1753A>G
XM_005256485.3:c.329+2T>C
XM_006721463.3:c.329+2T>C
XM_006721464.2:c.-113+2T>C
XM_011523691.2:c.329+2T>C
XM_011523692.2:c.-113+2T>C
XM_017024254.1:c.-113+2T>C XP_016879743.1:p.=
XM_017024255.1:c.-113+2T>C XP_016879744.1:p.=
XM_017024256.1:c.-113+2T>C XP_016879745.1:p.=
XM_017024257.1:c.-113+2T>C XP_016879746.1:p.=
XM_017024258.1:c.-113+2T>C XP_016879747.1:p.=
XR_934158.2:n.1160+1753A>G
XR_934159.2:n.450+1753A>G
XR_934160.2:n.455+1753A>G
XR_934163.2:n.1051+1753A>G
ENST00000046640.7:c.329+2T>C ENSP00000046640.3:p.=
ENST00000381870.7:c.329+2T>C ENSP00000371294.3:p.=
ENST00000467663.5:c.*82+2T>C ENSP00000461056.1:p.=
ENST00000574218.1:c.-113+2T>C ENSP00000458912.1:p.=
ENST00000574776.5:c.-112-118T>C ENSP00000461118.1:p.=
ENST00000576979.1:c.329+2T>C ENSP00000458457.1:p.=