Canonical Allele Identifier: CA2243969770

Gene: CTNS

Linked Data

• dbSNP Id: rs2075537878
• gnomAD v4: 17-3636741-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636741C>T , CM000679.2:g.3636741C>T	GRCh38
NC_000017.10:g.3540035C>T , CM000679.1:g.3540035C>T	GRCh37
NC_000017.9:g.3486784C>T	NCBI36
NG_012489.1:g.5274C>T
NG_052852.1:g.4582G>A
NG_012489.2:g.5274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-230+33C>T	ENSP00000371294.3:n.-230+33C>T
ENST00000488623.6:c.-967C>T	ENSP00000501016.1:n.-967C>T
ENST00000574776.6:c.-493C>T	ENSP00000461118.2:n.-493C>T
ENST00000673669.1:c.-596C>T	ENSP00000501123.1:n.-596C>T
ENST00000673965.1:c.-230+38C>T	ENSP00000500995.1:n.-230+38C>T
ENST00000046640.7:c.-320C>T	ENSP00000046640.3:n.-320C>T
ENST00000381870.7:c.-230+33C>T	ENSP00000371294.3:n.-230+33C>T
ENST00000452111.5:c.-376C>T	ENSP00000408652.1:n.-376C>T
ENST00000574776.5:c.-493C>T	ENSP00000461118.1:n.-493C>T
NM_001031681.2:c.-230+33C>T	NP_001026851.2:n.-230+33C>T
NM_004937.2:c.-320C>T	NP_004928.2:n.-320C>T
XM_005256485.1:c.-320C>T	XP_005256542.1:n.-320C>T
XM_006721463.1:c.-230+38C>T	XP_006721526.1:n.-230+38C>T
XM_006721464.1:c.-676C>T	XP_006721527.1:n.-676C>T
XM_011523691.1:c.-376C>T	XP_011521993.1:n.-376C>T
XM_011523692.1:c.-681C>T	XP_011521994.1:n.-681C>T
XR_934003.1:n.274C>T
XM_005256485.3:c.-320C>T	XP_005256542.1:n.-320C>T
XM_006721463.3:c.-230+38C>T	XP_006721526.1:n.-230+38C>T
XM_006721464.2:c.-676C>T	XP_006721527.1:n.-676C>T
XM_011523691.2:c.-376C>T	XP_011521993.1:n.-376C>T
XM_011523692.2:c.-681C>T	XP_011521994.1:n.-681C>T
XM_017024254.1:c.-597C>T	XP_016879743.1:n.-597C>T
XM_017024255.1:c.-676C>T	XP_016879744.1:n.-676C>T
XM_017024256.1:c.-681C>T	XP_016879745.1:n.-681C>T
XM_017024257.1:c.-597C>T	XP_016879746.1:n.-597C>T
XM_017024258.1:c.-596C>T	XP_016879747.1:n.-596C>T
NM_001031681.3:c.-230+33C>T	NP_001026851.2:n.-230+33C>T