Canonical Allele Identifier: CA2808256188
Gene: CTNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3637231G>T , CM000679.2:g.3637231G>T GRCh38
NC_000017.10:g.3540525G>T , CM000679.1:g.3540525G>T GRCh37
NC_000017.9:g.3487274G>T NCBI36
NG_012489.1:g.5764G>T
NG_052852.1:g.4092C>A
NG_012489.2:g.5764G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000046640.9:c.-105G>T MANE Select ENSP00000046640.4:n.-105G>T
ENST00000381870.8:c.-105G>T ENSP00000371294.3:n.-105G>T
ENST00000399306.7:c.-105G>T ENSP00000382245.2:n.-105G>T
ENST00000488623.6:c.-752G>T ENSP00000501016.1:n.-752G>T
ENST00000574776.6:c.-278G>T ENSP00000461118.2:n.-278G>T
ENST00000673669.1:c.-381G>T ENSP00000501123.1:n.-381G>T
ENST00000673965.1:c.-105G>T ENSP00000500995.1:n.-105G>T
ENST00000046640.7:c.-105G>T ENSP00000046640.3:n.-105G>T
ENST00000381870.7:c.-105G>T ENSP00000371294.3:n.-105G>T
ENST00000399306.6:c.-105G>T ENSP00000382245.2:n.-105G>T
ENST00000452111.5:c.-105G>T ENSP00000408652.1:n.-105G>T
ENST00000467663.5:c.-105G>T ENSP00000461056.1:n.-105G>T
ENST00000488623.5:n.197G>T
ENST00000495445.5:n.210G>T
ENST00000574218.1:c.-302G>T ENSP00000458912.1:n.-302G>T
ENST00000574776.5:c.-278G>T ENSP00000461118.1:n.-278G>T
NM_001031681.2:c.-105G>T NP_001026851.2:n.-105G>T
NM_004937.2:c.-105G>T NP_004928.2:n.-105G>T
XM_005256485.1:c.-105G>T XP_005256542.1:n.-105G>T
XM_006721463.1:c.-105G>T XP_006721526.1:n.-105G>T
XM_006721464.1:c.-461G>T XP_006721527.1:n.-461G>T
XM_011523691.1:c.-105G>T XP_011521993.1:n.-105G>T
XM_011523692.1:c.-466G>T XP_011521994.1:n.-466G>T
XR_934003.1:n.489G>T
XM_005256485.3:c.-105G>T XP_005256542.1:n.-105G>T
XM_006721463.3:c.-105G>T XP_006721526.1:n.-105G>T
XM_006721464.2:c.-461G>T XP_006721527.1:n.-461G>T
XM_011523691.2:c.-105G>T XP_011521993.1:n.-105G>T
XM_011523692.2:c.-466G>T XP_011521994.1:n.-466G>T
XM_017024254.1:c.-382G>T XP_016879743.1:n.-382G>T
XM_017024255.1:c.-461G>T XP_016879744.1:n.-461G>T
XM_017024256.1:c.-466G>T XP_016879745.1:n.-466G>T
XM_017024257.1:c.-382G>T XP_016879746.1:n.-382G>T
XM_017024258.1:c.-381G>T XP_016879747.1:n.-381G>T
NM_001374492.1:c.-105G>T NP_001361421.1:n.-105G>T
NM_001374493.1:c.-461G>T NP_001361422.1:n.-461G>T
NM_001374494.1:c.-466G>T NP_001361423.1:n.-466G>T
NM_001374495.1:c.-382G>T NP_001361424.1:n.-382G>T
NM_001374496.1:c.-381G>T NP_001361425.1:n.-381G>T
NM_004937.3:c.-105G>T MANE Select NP_004928.2:n.-105G>T
NM_001031681.3:c.-105G>T NP_001026851.2:n.-105G>T