Canonical Allele Identifier: CA980876551

Gene: CTNS

Linked Data

• dbSNP Id: rs2075537179
• gnomAD v3: 17-3636712-A-C
• gnomAD v4: 17-3636712-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636712A>C , CM000679.2:g.3636712A>C	GRCh38
NC_000017.10:g.3540006A>C , CM000679.1:g.3540006A>C	GRCh37
NC_000017.9:g.3486755A>C	NCBI36
NG_012489.1:g.5245A>C
NG_052852.1:g.4611T>G
NG_012489.2:g.5245A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-230+4A>C	ENSP00000371294.3:n.-230+4A>C
ENST00000673965.1:c.-230+9A>C	ENSP00000500995.1:n.-230+9A>C
ENST00000046640.7:c.-349A>C	ENSP00000046640.3:n.-349A>C
ENST00000381870.7:c.-230+4A>C	ENSP00000371294.3:n.-230+4A>C
NM_001031681.2:c.-230+4A>C	NP_001026851.2:n.-230+4A>C
NM_004937.2:c.-349A>C	NP_004928.2:n.-349A>C
XM_005256485.1:c.-349A>C	XP_005256542.1:n.-349A>C
XM_006721463.1:c.-230+9A>C	XP_006721526.1:n.-230+9A>C
XM_006721464.1:c.-705A>C	XP_006721527.1:n.-705A>C
XM_011523692.1:c.-710A>C	XP_011521994.1:n.-710A>C
XR_934003.1:n.245A>C
XM_005256485.3:c.-349A>C	XP_005256542.1:n.-349A>C
XM_006721463.3:c.-230+9A>C	XP_006721526.1:n.-230+9A>C
XM_006721464.2:c.-705A>C	XP_006721527.1:n.-705A>C
XM_011523692.2:c.-710A>C	XP_011521994.1:n.-710A>C
XM_017024254.1:c.-626A>C	XP_016879743.1:n.-626A>C
XM_017024255.1:c.-705A>C	XP_016879744.1:n.-705A>C
XM_017024256.1:c.-710A>C	XP_016879745.1:n.-710A>C
XM_017024257.1:c.-626A>C	XP_016879746.1:n.-626A>C
XM_017024258.1:c.-625A>C	XP_016879747.1:n.-625A>C
NM_001031681.3:c.-230+4A>C	NP_001026851.2:n.-230+4A>C