Canonical Allele Identifier: CA286999318

Gene: CTNS

Linked Data

• dbSNP Id: rs1014792738
• gnomAD v3: 17-3636719-A-C
• gnomAD v4: 17-3636719-A-C
• MyVariant Identifiers: chr17:g.3540013A>C (hg19) ; chr17:g.3636719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636719A>C , CM000679.2:g.3636719A>C	GRCh38
NC_000017.10:g.3540013A>C , CM000679.1:g.3540013A>C	GRCh37
NC_000017.9:g.3486762A>C	NCBI36
NG_012489.1:g.5252A>C
NG_052852.1:g.4604T>G
NG_012489.2:g.5252A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-230+11A>C	ENSP00000371294.3:n.-230+11A>C
ENST00000673965.1:c.-230+16A>C	ENSP00000500995.1:n.-230+16A>C
ENST00000046640.7:c.-342A>C	ENSP00000046640.3:n.-342A>C
ENST00000381870.7:c.-230+11A>C	ENSP00000371294.3:n.-230+11A>C
NM_001031681.2:c.-230+11A>C	NP_001026851.2:n.-230+11A>C
NM_004937.2:c.-342A>C	NP_004928.2:n.-342A>C
XM_005256485.1:c.-342A>C	XP_005256542.1:n.-342A>C
XM_006721463.1:c.-230+16A>C	XP_006721526.1:n.-230+16A>C
XM_006721464.1:c.-698A>C	XP_006721527.1:n.-698A>C
XM_011523692.1:c.-703A>C	XP_011521994.1:n.-703A>C
XR_934003.1:n.252A>C
XM_005256485.3:c.-342A>C	XP_005256542.1:n.-342A>C
XM_006721463.3:c.-230+16A>C	XP_006721526.1:n.-230+16A>C
XM_006721464.2:c.-698A>C	XP_006721527.1:n.-698A>C
XM_011523692.2:c.-703A>C	XP_011521994.1:n.-703A>C
XM_017024254.1:c.-619A>C	XP_016879743.1:n.-619A>C
XM_017024255.1:c.-698A>C	XP_016879744.1:n.-698A>C
XM_017024256.1:c.-703A>C	XP_016879745.1:n.-703A>C
XM_017024257.1:c.-619A>C	XP_016879746.1:n.-619A>C
XM_017024258.1:c.-618A>C	XP_016879747.1:n.-618A>C
NM_001031681.3:c.-230+11A>C	NP_001026851.2:n.-230+11A>C