Canonical Allele Identifier: CA2635387679

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636533-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636533T>A , CM000679.2:g.3636533T>A	GRCh38
NC_000017.10:g.3539827T>A , CM000679.1:g.3539827T>A	GRCh37
NC_000017.9:g.3486576T>A	NCBI36
NG_012489.1:g.5066T>A
NG_052852.1:g.4790A>T
NG_012489.2:g.5066T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-405T>A	ENSP00000371294.3:n.-405T>A
ENST00000673965.1:c.-400T>A	ENSP00000500995.1:n.-400T>A
ENST00000046640.7:c.-528T>A	ENSP00000046640.3:n.-528T>A
ENST00000381870.7:c.-405T>A	ENSP00000371294.3:n.-405T>A
NM_001031681.2:c.-405T>A	NP_001026851.2:n.-405T>A
NM_004937.2:c.-528T>A	NP_004928.2:n.-528T>A
XM_005256485.1:c.-528T>A	XP_005256542.1:n.-528T>A
XM_006721463.1:c.-400T>A	XP_006721526.1:n.-400T>A
XM_006721464.1:c.-884T>A	XP_006721527.1:n.-884T>A
XM_011523692.1:c.-889T>A	XP_011521994.1:n.-889T>A
XR_934003.1:n.66T>A
XM_005256485.3:c.-528T>A	XP_005256542.1:n.-528T>A
XM_006721463.3:c.-400T>A	XP_006721526.1:n.-400T>A
XM_006721464.2:c.-884T>A	XP_006721527.1:n.-884T>A
XM_011523692.2:c.-889T>A	XP_011521994.1:n.-889T>A
XM_017024254.1:c.-805T>A	XP_016879743.1:n.-805T>A
XM_017024255.1:c.-884T>A	XP_016879744.1:n.-884T>A
XM_017024256.1:c.-889T>A	XP_016879745.1:n.-889T>A
XM_017024257.1:c.-805T>A	XP_016879746.1:n.-805T>A
XM_017024258.1:c.-804T>A	XP_016879747.1:n.-804T>A
NM_001031681.3:c.-405T>A	NP_001026851.2:n.-405T>A