Canonical Allele Identifier: CA980876532

Gene: CTNS

Linked Data

• dbSNP Id: rs2075535916
• gnomAD v3: 17-3636635-G-C
• gnomAD v4: 17-3636635-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636635G>C , CM000679.2:g.3636635G>C	GRCh38
NC_000017.10:g.3539929G>C , CM000679.1:g.3539929G>C	GRCh37
NC_000017.9:g.3486678G>C	NCBI36
NG_012489.1:g.5168G>C
NG_052852.1:g.4688C>G
NG_012489.2:g.5168G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-303G>C	ENSP00000371294.3:n.-303G>C
ENST00000673965.1:c.-298G>C	ENSP00000500995.1:n.-298G>C
ENST00000046640.7:c.-426G>C	ENSP00000046640.3:n.-426G>C
ENST00000381870.7:c.-303G>C	ENSP00000371294.3:n.-303G>C
NM_001031681.2:c.-303G>C	NP_001026851.2:n.-303G>C
NM_004937.2:c.-426G>C	NP_004928.2:n.-426G>C
XM_005256485.1:c.-426G>C	XP_005256542.1:n.-426G>C
XM_006721463.1:c.-298G>C	XP_006721526.1:n.-298G>C
XM_006721464.1:c.-782G>C	XP_006721527.1:n.-782G>C
XM_011523692.1:c.-787G>C	XP_011521994.1:n.-787G>C
XR_934003.1:n.168G>C
XM_005256485.3:c.-426G>C	XP_005256542.1:n.-426G>C
XM_006721463.3:c.-298G>C	XP_006721526.1:n.-298G>C
XM_006721464.2:c.-782G>C	XP_006721527.1:n.-782G>C
XM_011523692.2:c.-787G>C	XP_011521994.1:n.-787G>C
XM_017024254.1:c.-703G>C	XP_016879743.1:n.-703G>C
XM_017024255.1:c.-782G>C	XP_016879744.1:n.-782G>C
XM_017024256.1:c.-787G>C	XP_016879745.1:n.-787G>C
XM_017024257.1:c.-703G>C	XP_016879746.1:n.-703G>C
XM_017024258.1:c.-702G>C	XP_016879747.1:n.-702G>C
NM_001031681.3:c.-303G>C	NP_001026851.2:n.-303G>C