Canonical Allele Identifier: CA980876585

Gene: CTNS

Linked Data

• dbSNP Id: rs2075538972
• gnomAD v3: 17-3636776-C-G
• gnomAD v4: 17-3636776-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636776C>G , CM000679.2:g.3636776C>G	GRCh38
NC_000017.10:g.3540070C>G , CM000679.1:g.3540070C>G	GRCh37
NC_000017.9:g.3486819C>G	NCBI36
NG_012489.1:g.5309C>G
NG_052852.1:g.4547G>C
NG_012489.2:g.5309C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.-285C>G MANE Select	ENSP00000046640.4:n.-285C>G
ENST00000381870.8:c.-230+68C>G	ENSP00000371294.3:n.-230+68C>G
ENST00000488623.6:c.-932C>G	ENSP00000501016.1:n.-932C>G
ENST00000574776.6:c.-458C>G	ENSP00000461118.2:n.-458C>G
ENST00000673669.1:c.-561C>G	ENSP00000501123.1:n.-561C>G
ENST00000673965.1:c.-230+73C>G	ENSP00000500995.1:n.-230+73C>G
ENST00000046640.7:c.-285C>G	ENSP00000046640.3:n.-285C>G
ENST00000381870.7:c.-230+68C>G	ENSP00000371294.3:n.-230+68C>G
ENST00000452111.5:c.-341C>G	ENSP00000408652.1:n.-341C>G
ENST00000467663.5:c.-285C>G	ENSP00000461056.1:n.-285C>G
ENST00000488623.5:n.17C>G
ENST00000495445.5:n.30C>G
ENST00000574218.1:c.-482C>G	ENSP00000458912.1:n.-482C>G
ENST00000574776.5:c.-458C>G	ENSP00000461118.1:n.-458C>G
NM_001031681.2:c.-230+68C>G	NP_001026851.2:n.-230+68C>G
NM_004937.2:c.-285C>G	NP_004928.2:n.-285C>G
XM_005256485.1:c.-285C>G	XP_005256542.1:n.-285C>G
XM_006721463.1:c.-230+73C>G	XP_006721526.1:n.-230+73C>G
XM_006721464.1:c.-641C>G	XP_006721527.1:n.-641C>G
XM_011523691.1:c.-341C>G	XP_011521993.1:n.-341C>G
XM_011523692.1:c.-646C>G	XP_011521994.1:n.-646C>G
XR_934003.1:n.309C>G
XM_005256485.3:c.-285C>G	XP_005256542.1:n.-285C>G
XM_006721463.3:c.-230+73C>G	XP_006721526.1:n.-230+73C>G
XM_006721464.2:c.-641C>G	XP_006721527.1:n.-641C>G
XM_011523691.2:c.-341C>G	XP_011521993.1:n.-341C>G
XM_011523692.2:c.-646C>G	XP_011521994.1:n.-646C>G
XM_017024254.1:c.-562C>G	XP_016879743.1:n.-562C>G
XM_017024255.1:c.-641C>G	XP_016879744.1:n.-641C>G
XM_017024256.1:c.-646C>G	XP_016879745.1:n.-646C>G
XM_017024257.1:c.-562C>G	XP_016879746.1:n.-562C>G
XM_017024258.1:c.-561C>G	XP_016879747.1:n.-561C>G
NM_001374492.1:c.-285C>G	NP_001361421.1:n.-285C>G
NM_001374493.1:c.-641C>G	NP_001361422.1:n.-641C>G
NM_001374494.1:c.-646C>G	NP_001361423.1:n.-646C>G
NM_001374495.1:c.-562C>G	NP_001361424.1:n.-562C>G
NM_001374496.1:c.-561C>G	NP_001361425.1:n.-561C>G
NM_004937.3:c.-285C>G MANE Select	NP_004928.2:n.-285C>G
NM_001031681.3:c.-230+68C>G	NP_001026851.2:n.-230+68C>G