Canonical Allele Identifier: CA2635389177
Gene: CTNS HGNC NCBI

Linked Data

gnomAD v4: 17-3637234-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3637234G>A , CM000679.2:g.3637234G>A GRCh38
NC_000017.10:g.3540528G>A , CM000679.1:g.3540528G>A GRCh37
NC_000017.9:g.3487277G>A NCBI36
NG_012489.1:g.5767G>A
NG_052852.1:g.4089C>T
NG_012489.2:g.5767G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000046640.9:c.-102G>A MANE Select ENSP00000046640.4:n.-102G>A
ENST00000381870.8:c.-102G>A ENSP00000371294.3:n.-102G>A
ENST00000399306.7:c.-102G>A ENSP00000382245.2:n.-102G>A
ENST00000488623.6:c.-749G>A ENSP00000501016.1:n.-749G>A
ENST00000574776.6:c.-275G>A ENSP00000461118.2:n.-275G>A
ENST00000673669.1:c.-378G>A ENSP00000501123.1:n.-378G>A
ENST00000673965.1:c.-102G>A ENSP00000500995.1:n.-102G>A
ENST00000046640.7:c.-102G>A ENSP00000046640.3:n.-102G>A
ENST00000381870.7:c.-102G>A ENSP00000371294.3:n.-102G>A
ENST00000399306.6:c.-102G>A ENSP00000382245.2:n.-102G>A
ENST00000452111.5:c.-102G>A ENSP00000408652.1:n.-102G>A
ENST00000467663.5:c.-102G>A ENSP00000461056.1:n.-102G>A
ENST00000488623.5:n.200G>A
ENST00000495445.5:n.213G>A
ENST00000574218.1:c.-299G>A ENSP00000458912.1:n.-299G>A
ENST00000574776.5:c.-275G>A ENSP00000461118.1:n.-275G>A
NM_001031681.2:c.-102G>A NP_001026851.2:n.-102G>A
NM_004937.2:c.-102G>A NP_004928.2:n.-102G>A
XM_005256485.1:c.-102G>A XP_005256542.1:n.-102G>A
XM_006721463.1:c.-102G>A XP_006721526.1:n.-102G>A
XM_006721464.1:c.-458G>A XP_006721527.1:n.-458G>A
XM_011523691.1:c.-102G>A XP_011521993.1:n.-102G>A
XM_011523692.1:c.-463G>A XP_011521994.1:n.-463G>A
XR_934003.1:n.492G>A
XM_005256485.3:c.-102G>A XP_005256542.1:n.-102G>A
XM_006721463.3:c.-102G>A XP_006721526.1:n.-102G>A
XM_006721464.2:c.-458G>A XP_006721527.1:n.-458G>A
XM_011523691.2:c.-102G>A XP_011521993.1:n.-102G>A
XM_011523692.2:c.-463G>A XP_011521994.1:n.-463G>A
XM_017024254.1:c.-379G>A XP_016879743.1:n.-379G>A
XM_017024255.1:c.-458G>A XP_016879744.1:n.-458G>A
XM_017024256.1:c.-463G>A XP_016879745.1:n.-463G>A
XM_017024257.1:c.-379G>A XP_016879746.1:n.-379G>A
XM_017024258.1:c.-378G>A XP_016879747.1:n.-378G>A
NM_001374492.1:c.-102G>A NP_001361421.1:n.-102G>A
NM_001374493.1:c.-458G>A NP_001361422.1:n.-458G>A
NM_001374494.1:c.-463G>A NP_001361423.1:n.-463G>A
NM_001374495.1:c.-379G>A NP_001361424.1:n.-379G>A
NM_001374496.1:c.-378G>A NP_001361425.1:n.-378G>A
NM_004937.3:c.-102G>A MANE Select NP_004928.2:n.-102G>A
NM_001031681.3:c.-102G>A NP_001026851.2:n.-102G>A