Canonical Allele Identifier: CA2635387723

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636547-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636547T>G , CM000679.2:g.3636547T>G	GRCh38
NC_000017.10:g.3539841T>G , CM000679.1:g.3539841T>G	GRCh37
NC_000017.9:g.3486590T>G	NCBI36
NG_012489.1:g.5080T>G
NG_052852.1:g.4776A>C
NG_012489.2:g.5080T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-391T>G	ENSP00000371294.3:n.-391T>G
ENST00000673965.1:c.-386T>G	ENSP00000500995.1:n.-386T>G
ENST00000046640.7:c.-514T>G	ENSP00000046640.3:n.-514T>G
ENST00000381870.7:c.-391T>G	ENSP00000371294.3:n.-391T>G
NM_001031681.2:c.-391T>G	NP_001026851.2:n.-391T>G
NM_004937.2:c.-514T>G	NP_004928.2:n.-514T>G
XM_005256485.1:c.-514T>G	XP_005256542.1:n.-514T>G
XM_006721463.1:c.-386T>G	XP_006721526.1:n.-386T>G
XM_006721464.1:c.-870T>G	XP_006721527.1:n.-870T>G
XM_011523692.1:c.-875T>G	XP_011521994.1:n.-875T>G
XR_934003.1:n.80T>G
XM_005256485.3:c.-514T>G	XP_005256542.1:n.-514T>G
XM_006721463.3:c.-386T>G	XP_006721526.1:n.-386T>G
XM_006721464.2:c.-870T>G	XP_006721527.1:n.-870T>G
XM_011523692.2:c.-875T>G	XP_011521994.1:n.-875T>G
XM_017024254.1:c.-791T>G	XP_016879743.1:n.-791T>G
XM_017024255.1:c.-870T>G	XP_016879744.1:n.-870T>G
XM_017024256.1:c.-875T>G	XP_016879745.1:n.-875T>G
XM_017024257.1:c.-791T>G	XP_016879746.1:n.-791T>G
XM_017024258.1:c.-790T>G	XP_016879747.1:n.-790T>G
NM_001031681.3:c.-391T>G	NP_001026851.2:n.-391T>G