Canonical Allele Identifier: CA2508821638

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636713-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636713C>T , CM000679.2:g.3636713C>T	GRCh38
NC_000017.10:g.3540007C>T , CM000679.1:g.3540007C>T	GRCh37
NC_000017.9:g.3486756C>T	NCBI36
NG_012489.1:g.5246C>T
NG_052852.1:g.4610G>A
NG_012489.2:g.5246C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381870.8:c.-230+5C>T	ENSP00000371294.3:n.-230+5C>T
ENST00000673965.1:c.-230+10C>T	ENSP00000500995.1:n.-230+10C>T
ENST00000046640.7:c.-348C>T	ENSP00000046640.3:n.-348C>T
ENST00000381870.7:c.-230+5C>T	ENSP00000371294.3:n.-230+5C>T
NM_001031681.2:c.-230+5C>T	NP_001026851.2:n.-230+5C>T
NM_004937.2:c.-348C>T	NP_004928.2:n.-348C>T
XM_005256485.1:c.-348C>T	XP_005256542.1:n.-348C>T
XM_006721463.1:c.-230+10C>T	XP_006721526.1:n.-230+10C>T
XM_006721464.1:c.-704C>T	XP_006721527.1:n.-704C>T
XM_011523692.1:c.-709C>T	XP_011521994.1:n.-709C>T
XR_934003.1:n.246C>T
XM_005256485.3:c.-348C>T	XP_005256542.1:n.-348C>T
XM_006721463.3:c.-230+10C>T	XP_006721526.1:n.-230+10C>T
XM_006721464.2:c.-704C>T	XP_006721527.1:n.-704C>T
XM_011523692.2:c.-709C>T	XP_011521994.1:n.-709C>T
XM_017024254.1:c.-625C>T	XP_016879743.1:n.-625C>T
XM_017024255.1:c.-704C>T	XP_016879744.1:n.-704C>T
XM_017024256.1:c.-709C>T	XP_016879745.1:n.-709C>T
XM_017024257.1:c.-625C>T	XP_016879746.1:n.-625C>T
XM_017024258.1:c.-624C>T	XP_016879747.1:n.-624C>T
NM_001031681.3:c.-230+5C>T	NP_001026851.2:n.-230+5C>T