Canonical Allele Identifier: CA2635388346

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636738-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636738T>C , CM000679.2:g.3636738T>C	GRCh38
NC_000017.10:g.3540032T>C , CM000679.1:g.3540032T>C	GRCh37
NC_000017.9:g.3486781T>C	NCBI36
NG_012489.1:g.5271T>C
NG_052852.1:g.4585A>G
NG_012489.2:g.5271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-230+30T>C	ENSP00000371294.3:n.-230+30T>C
ENST00000574776.6:c.-496T>C	ENSP00000461118.2:n.-496T>C
ENST00000673669.1:c.-599T>C	ENSP00000501123.1:n.-599T>C
ENST00000673965.1:c.-230+35T>C	ENSP00000500995.1:n.-230+35T>C
ENST00000046640.7:c.-323T>C	ENSP00000046640.3:n.-323T>C
ENST00000381870.7:c.-230+30T>C	ENSP00000371294.3:n.-230+30T>C
ENST00000452111.5:c.-379T>C	ENSP00000408652.1:n.-379T>C
ENST00000574776.5:c.-496T>C	ENSP00000461118.1:n.-496T>C
NM_001031681.2:c.-230+30T>C	NP_001026851.2:n.-230+30T>C
NM_004937.2:c.-323T>C	NP_004928.2:n.-323T>C
XM_005256485.1:c.-323T>C	XP_005256542.1:n.-323T>C
XM_006721463.1:c.-230+35T>C	XP_006721526.1:n.-230+35T>C
XM_006721464.1:c.-679T>C	XP_006721527.1:n.-679T>C
XM_011523691.1:c.-379T>C	XP_011521993.1:n.-379T>C
XM_011523692.1:c.-684T>C	XP_011521994.1:n.-684T>C
XR_934003.1:n.271T>C
XM_005256485.3:c.-323T>C	XP_005256542.1:n.-323T>C
XM_006721463.3:c.-230+35T>C	XP_006721526.1:n.-230+35T>C
XM_006721464.2:c.-679T>C	XP_006721527.1:n.-679T>C
XM_011523691.2:c.-379T>C	XP_011521993.1:n.-379T>C
XM_011523692.2:c.-684T>C	XP_011521994.1:n.-684T>C
XM_017024254.1:c.-600T>C	XP_016879743.1:n.-600T>C
XM_017024255.1:c.-679T>C	XP_016879744.1:n.-679T>C
XM_017024256.1:c.-684T>C	XP_016879745.1:n.-684T>C
XM_017024257.1:c.-600T>C	XP_016879746.1:n.-600T>C
XM_017024258.1:c.-599T>C	XP_016879747.1:n.-599T>C
NM_001031681.3:c.-230+30T>C	NP_001026851.2:n.-230+30T>C