Canonical Allele Identifier: CA2635388283

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636714-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636714A>G , CM000679.2:g.3636714A>G	GRCh38
NC_000017.10:g.3540008A>G , CM000679.1:g.3540008A>G	GRCh37
NC_000017.9:g.3486757A>G	NCBI36
NG_012489.1:g.5247A>G
NG_052852.1:g.4609T>C
NG_012489.2:g.5247A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381870.8:c.-230+6A>G	ENSP00000371294.3:n.-230+6A>G
ENST00000673965.1:c.-230+11A>G	ENSP00000500995.1:n.-230+11A>G
ENST00000046640.7:c.-347A>G	ENSP00000046640.3:n.-347A>G
ENST00000381870.7:c.-230+6A>G	ENSP00000371294.3:n.-230+6A>G
NM_001031681.2:c.-230+6A>G	NP_001026851.2:n.-230+6A>G
NM_004937.2:c.-347A>G	NP_004928.2:n.-347A>G
XM_005256485.1:c.-347A>G	XP_005256542.1:n.-347A>G
XM_006721463.1:c.-230+11A>G	XP_006721526.1:n.-230+11A>G
XM_006721464.1:c.-703A>G	XP_006721527.1:n.-703A>G
XM_011523692.1:c.-708A>G	XP_011521994.1:n.-708A>G
XR_934003.1:n.247A>G
XM_005256485.3:c.-347A>G	XP_005256542.1:n.-347A>G
XM_006721463.3:c.-230+11A>G	XP_006721526.1:n.-230+11A>G
XM_006721464.2:c.-703A>G	XP_006721527.1:n.-703A>G
XM_011523692.2:c.-708A>G	XP_011521994.1:n.-708A>G
XM_017024254.1:c.-624A>G	XP_016879743.1:n.-624A>G
XM_017024255.1:c.-703A>G	XP_016879744.1:n.-703A>G
XM_017024256.1:c.-708A>G	XP_016879745.1:n.-708A>G
XM_017024257.1:c.-624A>G	XP_016879746.1:n.-624A>G
XM_017024258.1:c.-623A>G	XP_016879747.1:n.-623A>G
NM_001031681.3:c.-230+6A>G	NP_001026851.2:n.-230+6A>G