Canonical Allele Identifier: CA2635387947

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636602-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636602C>T , CM000679.2:g.3636602C>T	GRCh38
NC_000017.10:g.3539896C>T , CM000679.1:g.3539896C>T	GRCh37
NC_000017.9:g.3486645C>T	NCBI36
NG_012489.1:g.5135C>T
NG_052852.1:g.4721G>A
NG_012489.2:g.5135C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381870.8:c.-336C>T	ENSP00000371294.3:n.-336C>T
ENST00000673965.1:c.-331C>T	ENSP00000500995.1:n.-331C>T
ENST00000046640.7:c.-459C>T	ENSP00000046640.3:n.-459C>T
ENST00000381870.7:c.-336C>T	ENSP00000371294.3:n.-336C>T
NM_001031681.2:c.-336C>T	NP_001026851.2:n.-336C>T
NM_004937.2:c.-459C>T	NP_004928.2:n.-459C>T
XM_005256485.1:c.-459C>T	XP_005256542.1:n.-459C>T
XM_006721463.1:c.-331C>T	XP_006721526.1:n.-331C>T
XM_006721464.1:c.-815C>T	XP_006721527.1:n.-815C>T
XM_011523692.1:c.-820C>T	XP_011521994.1:n.-820C>T
XR_934003.1:n.135C>T
XM_005256485.3:c.-459C>T	XP_005256542.1:n.-459C>T
XM_006721463.3:c.-331C>T	XP_006721526.1:n.-331C>T
XM_006721464.2:c.-815C>T	XP_006721527.1:n.-815C>T
XM_011523692.2:c.-820C>T	XP_011521994.1:n.-820C>T
XM_017024254.1:c.-736C>T	XP_016879743.1:n.-736C>T
XM_017024255.1:c.-815C>T	XP_016879744.1:n.-815C>T
XM_017024256.1:c.-820C>T	XP_016879745.1:n.-820C>T
XM_017024257.1:c.-736C>T	XP_016879746.1:n.-736C>T
XM_017024258.1:c.-735C>T	XP_016879747.1:n.-735C>T
NM_001031681.3:c.-336C>T	NP_001026851.2:n.-336C>T