Canonical Allele Identifier: CA2581287135

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636603-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636603C>A , CM000679.2:g.3636603C>A	GRCh38
NC_000017.10:g.3539897C>A , CM000679.1:g.3539897C>A	GRCh37
NC_000017.9:g.3486646C>A	NCBI36
NG_012489.1:g.5136C>A
NG_052852.1:g.4720G>T
NG_012489.2:g.5136C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-335C>A	ENSP00000371294.3:n.-335C>A
ENST00000673965.1:c.-330C>A	ENSP00000500995.1:n.-330C>A
ENST00000046640.7:c.-458C>A	ENSP00000046640.3:n.-458C>A
ENST00000381870.7:c.-335C>A	ENSP00000371294.3:n.-335C>A
NM_001031681.2:c.-335C>A	NP_001026851.2:n.-335C>A
NM_004937.2:c.-458C>A	NP_004928.2:n.-458C>A
XM_005256485.1:c.-458C>A	XP_005256542.1:n.-458C>A
XM_006721463.1:c.-330C>A	XP_006721526.1:n.-330C>A
XM_006721464.1:c.-814C>A	XP_006721527.1:n.-814C>A
XM_011523692.1:c.-819C>A	XP_011521994.1:n.-819C>A
XR_934003.1:n.136C>A
XM_005256485.3:c.-458C>A	XP_005256542.1:n.-458C>A
XM_006721463.3:c.-330C>A	XP_006721526.1:n.-330C>A
XM_006721464.2:c.-814C>A	XP_006721527.1:n.-814C>A
XM_011523692.2:c.-819C>A	XP_011521994.1:n.-819C>A
XM_017024254.1:c.-735C>A	XP_016879743.1:n.-735C>A
XM_017024255.1:c.-814C>A	XP_016879744.1:n.-814C>A
XM_017024256.1:c.-819C>A	XP_016879745.1:n.-819C>A
XM_017024257.1:c.-735C>A	XP_016879746.1:n.-735C>A
XM_017024258.1:c.-734C>A	XP_016879747.1:n.-734C>A
NM_001031681.3:c.-335C>A	NP_001026851.2:n.-335C>A