Canonical Allele Identifier: CA624535336

Gene: CTNS

Linked Data

• dbSNP Id: rs1393225871
• gnomAD v2: 17-3539893-G-A
• gnomAD v3: 17-3636599-G-A
• gnomAD v4: 17-3636599-G-A
• MyVariant Identifiers: chr17:g.3539893G>A (hg19) ; chr17:g.3636599G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636599G>A , CM000679.2:g.3636599G>A	GRCh38
NC_000017.10:g.3539893G>A , CM000679.1:g.3539893G>A	GRCh37
NC_000017.9:g.3486642G>A	NCBI36
NG_012489.1:g.5132G>A
NG_052852.1:g.4724C>T
NG_012489.2:g.5132G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381870.8:c.-339G>A	ENSP00000371294.3:n.-339G>A
ENST00000673965.1:c.-334G>A	ENSP00000500995.1:n.-334G>A
ENST00000046640.7:c.-462G>A	ENSP00000046640.3:n.-462G>A
ENST00000381870.7:c.-339G>A	ENSP00000371294.3:n.-339G>A
NM_001031681.2:c.-339G>A	NP_001026851.2:n.-339G>A
NM_004937.2:c.-462G>A	NP_004928.2:n.-462G>A
XM_005256485.1:c.-462G>A	XP_005256542.1:n.-462G>A
XM_006721463.1:c.-334G>A	XP_006721526.1:n.-334G>A
XM_006721464.1:c.-818G>A	XP_006721527.1:n.-818G>A
XM_011523692.1:c.-823G>A	XP_011521994.1:n.-823G>A
XR_934003.1:n.132G>A
XM_005256485.3:c.-462G>A	XP_005256542.1:n.-462G>A
XM_006721463.3:c.-334G>A	XP_006721526.1:n.-334G>A
XM_006721464.2:c.-818G>A	XP_006721527.1:n.-818G>A
XM_011523692.2:c.-823G>A	XP_011521994.1:n.-823G>A
XM_017024254.1:c.-739G>A	XP_016879743.1:n.-739G>A
XM_017024255.1:c.-818G>A	XP_016879744.1:n.-818G>A
XM_017024256.1:c.-823G>A	XP_016879745.1:n.-823G>A
XM_017024257.1:c.-739G>A	XP_016879746.1:n.-739G>A
XM_017024258.1:c.-738G>A	XP_016879747.1:n.-738G>A
NM_001031681.3:c.-339G>A	NP_001026851.2:n.-339G>A