Canonical Allele Identifier: CA980876505

Gene: CTNS

Linked Data

• dbSNP Id: rs1048350297
• gnomAD v3: 17-3636593-C-G
• gnomAD v4: 17-3636593-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636593C>G , CM000679.2:g.3636593C>G	GRCh38
NC_000017.10:g.3539887C>G , CM000679.1:g.3539887C>G	GRCh37
NC_000017.9:g.3486636C>G	NCBI36
NG_012489.1:g.5126C>G
NG_052852.1:g.4730G>C
NG_012489.2:g.5126C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-345C>G	ENSP00000371294.3:n.-345C>G
ENST00000673965.1:c.-340C>G	ENSP00000500995.1:n.-340C>G
ENST00000046640.7:c.-468C>G	ENSP00000046640.3:n.-468C>G
ENST00000381870.7:c.-345C>G	ENSP00000371294.3:n.-345C>G
NM_001031681.2:c.-345C>G	NP_001026851.2:n.-345C>G
NM_004937.2:c.-468C>G	NP_004928.2:n.-468C>G
XM_005256485.1:c.-468C>G	XP_005256542.1:n.-468C>G
XM_006721463.1:c.-340C>G	XP_006721526.1:n.-340C>G
XM_006721464.1:c.-824C>G	XP_006721527.1:n.-824C>G
XM_011523692.1:c.-829C>G	XP_011521994.1:n.-829C>G
XR_934003.1:n.126C>G
XM_005256485.3:c.-468C>G	XP_005256542.1:n.-468C>G
XM_006721463.3:c.-340C>G	XP_006721526.1:n.-340C>G
XM_006721464.2:c.-824C>G	XP_006721527.1:n.-824C>G
XM_011523692.2:c.-829C>G	XP_011521994.1:n.-829C>G
XM_017024254.1:c.-745C>G	XP_016879743.1:n.-745C>G
XM_017024255.1:c.-824C>G	XP_016879744.1:n.-824C>G
XM_017024256.1:c.-829C>G	XP_016879745.1:n.-829C>G
XM_017024257.1:c.-745C>G	XP_016879746.1:n.-745C>G
XM_017024258.1:c.-744C>G	XP_016879747.1:n.-744C>G
NM_001031681.3:c.-345C>G	NP_001026851.2:n.-345C>G