Canonical Allele Identifier: CA2635388300

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636721-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636721C>T , CM000679.2:g.3636721C>T	GRCh38
NC_000017.10:g.3540015C>T , CM000679.1:g.3540015C>T	GRCh37
NC_000017.9:g.3486764C>T	NCBI36
NG_012489.1:g.5254C>T
NG_052852.1:g.4602G>A
NG_012489.2:g.5254C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-230+13C>T	ENSP00000371294.3:n.-230+13C>T
ENST00000673965.1:c.-230+18C>T	ENSP00000500995.1:n.-230+18C>T
ENST00000046640.7:c.-340C>T	ENSP00000046640.3:n.-340C>T
ENST00000381870.7:c.-230+13C>T	ENSP00000371294.3:n.-230+13C>T
NM_001031681.2:c.-230+13C>T	NP_001026851.2:n.-230+13C>T
NM_004937.2:c.-340C>T	NP_004928.2:n.-340C>T
XM_005256485.1:c.-340C>T	XP_005256542.1:n.-340C>T
XM_006721463.1:c.-230+18C>T	XP_006721526.1:n.-230+18C>T
XM_006721464.1:c.-696C>T	XP_006721527.1:n.-696C>T
XM_011523692.1:c.-701C>T	XP_011521994.1:n.-701C>T
XR_934003.1:n.254C>T
XM_005256485.3:c.-340C>T	XP_005256542.1:n.-340C>T
XM_006721463.3:c.-230+18C>T	XP_006721526.1:n.-230+18C>T
XM_006721464.2:c.-696C>T	XP_006721527.1:n.-696C>T
XM_011523692.2:c.-701C>T	XP_011521994.1:n.-701C>T
XM_017024254.1:c.-617C>T	XP_016879743.1:n.-617C>T
XM_017024255.1:c.-696C>T	XP_016879744.1:n.-696C>T
XM_017024256.1:c.-701C>T	XP_016879745.1:n.-701C>T
XM_017024257.1:c.-617C>T	XP_016879746.1:n.-617C>T
XM_017024258.1:c.-616C>T	XP_016879747.1:n.-616C>T
NM_001031681.3:c.-230+13C>T	NP_001026851.2:n.-230+13C>T