Canonical Allele Identifier: CA2635388529

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636796-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636796C>A , CM000679.2:g.3636796C>A	GRCh38
NC_000017.10:g.3540090C>A , CM000679.1:g.3540090C>A	GRCh37
NC_000017.9:g.3486839C>A	NCBI36
NG_012489.1:g.5329C>A
NG_052852.1:g.4527G>T
NG_012489.2:g.5329C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.-265C>A MANE Select	ENSP00000046640.4:n.-265C>A
ENST00000381870.8:c.-230+88C>A	ENSP00000371294.3:n.-230+88C>A
ENST00000488623.6:c.-912C>A	ENSP00000501016.1:n.-912C>A
ENST00000574776.6:c.-438C>A	ENSP00000461118.2:n.-438C>A
ENST00000673669.1:c.-541C>A	ENSP00000501123.1:n.-541C>A
ENST00000673965.1:c.-230+93C>A	ENSP00000500995.1:n.-230+93C>A
ENST00000046640.7:c.-265C>A	ENSP00000046640.3:n.-265C>A
ENST00000381870.7:c.-230+88C>A	ENSP00000371294.3:n.-230+88C>A
ENST00000452111.5:c.-321C>A	ENSP00000408652.1:n.-321C>A
ENST00000467663.5:c.-265C>A	ENSP00000461056.1:n.-265C>A
ENST00000488623.5:n.37C>A
ENST00000495445.5:n.50C>A
ENST00000574218.1:c.-462C>A	ENSP00000458912.1:n.-462C>A
ENST00000574776.5:c.-438C>A	ENSP00000461118.1:n.-438C>A
NM_001031681.2:c.-230+88C>A	NP_001026851.2:n.-230+88C>A
NM_004937.2:c.-265C>A	NP_004928.2:n.-265C>A
XM_005256485.1:c.-265C>A	XP_005256542.1:n.-265C>A
XM_006721463.1:c.-230+93C>A	XP_006721526.1:n.-230+93C>A
XM_006721464.1:c.-621C>A	XP_006721527.1:n.-621C>A
XM_011523691.1:c.-321C>A	XP_011521993.1:n.-321C>A
XM_011523692.1:c.-626C>A	XP_011521994.1:n.-626C>A
XR_934003.1:n.329C>A
XM_005256485.3:c.-265C>A	XP_005256542.1:n.-265C>A
XM_006721463.3:c.-230+93C>A	XP_006721526.1:n.-230+93C>A
XM_006721464.2:c.-621C>A	XP_006721527.1:n.-621C>A
XM_011523691.2:c.-321C>A	XP_011521993.1:n.-321C>A
XM_011523692.2:c.-626C>A	XP_011521994.1:n.-626C>A
XM_017024254.1:c.-542C>A	XP_016879743.1:n.-542C>A
XM_017024255.1:c.-621C>A	XP_016879744.1:n.-621C>A
XM_017024256.1:c.-626C>A	XP_016879745.1:n.-626C>A
XM_017024257.1:c.-542C>A	XP_016879746.1:n.-542C>A
XM_017024258.1:c.-541C>A	XP_016879747.1:n.-541C>A
NM_001374492.1:c.-265C>A	NP_001361421.1:n.-265C>A
NM_001374493.1:c.-621C>A	NP_001361422.1:n.-621C>A
NM_001374494.1:c.-626C>A	NP_001361423.1:n.-626C>A
NM_001374495.1:c.-542C>A	NP_001361424.1:n.-542C>A
NM_001374496.1:c.-541C>A	NP_001361425.1:n.-541C>A
NM_004937.3:c.-265C>A MANE Select	NP_004928.2:n.-265C>A
NM_001031681.3:c.-230+88C>A	NP_001026851.2:n.-230+88C>A