Canonical Allele Identifier: CA728465793

Gene: CTNS

Linked Data

• dbSNP Id: rs1203428330
• gnomAD v3: 17-3636721-C-A
• gnomAD v4: 17-3636721-C-A
• MyVariant Identifiers: chr17:g.3540015C>A (hg19) ; chr17:g.3636721C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636721C>A , CM000679.2:g.3636721C>A	GRCh38
NC_000017.10:g.3540015C>A , CM000679.1:g.3540015C>A	GRCh37
NC_000017.9:g.3486764C>A	NCBI36
NG_012489.1:g.5254C>A
NG_052852.1:g.4602G>T
NG_012489.2:g.5254C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381870.8:c.-230+13C>A	ENSP00000371294.3:n.-230+13C>A
ENST00000673965.1:c.-230+18C>A	ENSP00000500995.1:n.-230+18C>A
ENST00000046640.7:c.-340C>A	ENSP00000046640.3:n.-340C>A
ENST00000381870.7:c.-230+13C>A	ENSP00000371294.3:n.-230+13C>A
NM_001031681.2:c.-230+13C>A	NP_001026851.2:n.-230+13C>A
NM_004937.2:c.-340C>A	NP_004928.2:n.-340C>A
XM_005256485.1:c.-340C>A	XP_005256542.1:n.-340C>A
XM_006721463.1:c.-230+18C>A	XP_006721526.1:n.-230+18C>A
XM_006721464.1:c.-696C>A	XP_006721527.1:n.-696C>A
XM_011523692.1:c.-701C>A	XP_011521994.1:n.-701C>A
XR_934003.1:n.254C>A
XM_005256485.3:c.-340C>A	XP_005256542.1:n.-340C>A
XM_006721463.3:c.-230+18C>A	XP_006721526.1:n.-230+18C>A
XM_006721464.2:c.-696C>A	XP_006721527.1:n.-696C>A
XM_011523692.2:c.-701C>A	XP_011521994.1:n.-701C>A
XM_017024254.1:c.-617C>A	XP_016879743.1:n.-617C>A
XM_017024255.1:c.-696C>A	XP_016879744.1:n.-696C>A
XM_017024256.1:c.-701C>A	XP_016879745.1:n.-701C>A
XM_017024257.1:c.-617C>A	XP_016879746.1:n.-617C>A
XM_017024258.1:c.-616C>A	XP_016879747.1:n.-616C>A
NM_001031681.3:c.-230+13C>A	NP_001026851.2:n.-230+13C>A