Canonical Allele Identifier: CA2635387938

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636600-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636600C>A , CM000679.2:g.3636600C>A	GRCh38
NC_000017.10:g.3539894C>A , CM000679.1:g.3539894C>A	GRCh37
NC_000017.9:g.3486643C>A	NCBI36
NG_012489.1:g.5133C>A
NG_052852.1:g.4723G>T
NG_012489.2:g.5133C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381870.8:c.-338C>A	ENSP00000371294.3:n.-338C>A
ENST00000673965.1:c.-333C>A	ENSP00000500995.1:n.-333C>A
ENST00000046640.7:c.-461C>A	ENSP00000046640.3:n.-461C>A
ENST00000381870.7:c.-338C>A	ENSP00000371294.3:n.-338C>A
NM_001031681.2:c.-338C>A	NP_001026851.2:n.-338C>A
NM_004937.2:c.-461C>A	NP_004928.2:n.-461C>A
XM_005256485.1:c.-461C>A	XP_005256542.1:n.-461C>A
XM_006721463.1:c.-333C>A	XP_006721526.1:n.-333C>A
XM_006721464.1:c.-817C>A	XP_006721527.1:n.-817C>A
XM_011523692.1:c.-822C>A	XP_011521994.1:n.-822C>A
XR_934003.1:n.133C>A
XM_005256485.3:c.-461C>A	XP_005256542.1:n.-461C>A
XM_006721463.3:c.-333C>A	XP_006721526.1:n.-333C>A
XM_006721464.2:c.-817C>A	XP_006721527.1:n.-817C>A
XM_011523692.2:c.-822C>A	XP_011521994.1:n.-822C>A
XM_017024254.1:c.-738C>A	XP_016879743.1:n.-738C>A
XM_017024255.1:c.-817C>A	XP_016879744.1:n.-817C>A
XM_017024256.1:c.-822C>A	XP_016879745.1:n.-822C>A
XM_017024257.1:c.-738C>A	XP_016879746.1:n.-738C>A
XM_017024258.1:c.-737C>A	XP_016879747.1:n.-737C>A
NM_001031681.3:c.-338C>A	NP_001026851.2:n.-338C>A