Canonical Allele Identifier: CA728465789

Gene: CTNS

Linked Data

• dbSNP Id: rs1466593408
• MyVariant Identifiers: chr17:g.3540009G>T (hg19) ; chr17:g.3636715G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636715G>T , CM000679.2:g.3636715G>T	GRCh38
NC_000017.10:g.3540009G>T , CM000679.1:g.3540009G>T	GRCh37
NC_000017.9:g.3486758G>T	NCBI36
NG_012489.1:g.5248G>T
NG_052852.1:g.4608C>A
NG_012489.2:g.5248G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381870.8:c.-230+7G>T	ENSP00000371294.3:n.-230+7G>T
ENST00000673965.1:c.-230+12G>T	ENSP00000500995.1:n.-230+12G>T
ENST00000046640.7:c.-346G>T	ENSP00000046640.3:n.-346G>T
ENST00000381870.7:c.-230+7G>T	ENSP00000371294.3:n.-230+7G>T
NM_001031681.2:c.-230+7G>T	NP_001026851.2:n.-230+7G>T
NM_004937.2:c.-346G>T	NP_004928.2:n.-346G>T
XM_005256485.1:c.-346G>T	XP_005256542.1:n.-346G>T
XM_006721463.1:c.-230+12G>T	XP_006721526.1:n.-230+12G>T
XM_006721464.1:c.-702G>T	XP_006721527.1:n.-702G>T
XM_011523692.1:c.-707G>T	XP_011521994.1:n.-707G>T
XR_934003.1:n.248G>T
XM_005256485.3:c.-346G>T	XP_005256542.1:n.-346G>T
XM_006721463.3:c.-230+12G>T	XP_006721526.1:n.-230+12G>T
XM_006721464.2:c.-702G>T	XP_006721527.1:n.-702G>T
XM_011523692.2:c.-707G>T	XP_011521994.1:n.-707G>T
XM_017024254.1:c.-623G>T	XP_016879743.1:n.-623G>T
XM_017024255.1:c.-702G>T	XP_016879744.1:n.-702G>T
XM_017024256.1:c.-707G>T	XP_016879745.1:n.-707G>T
XM_017024257.1:c.-623G>T	XP_016879746.1:n.-623G>T
XM_017024258.1:c.-622G>T	XP_016879747.1:n.-622G>T
NM_001031681.3:c.-230+7G>T	NP_001026851.2:n.-230+7G>T