Canonical Allele Identifier: CA980876519
Gene: CTNS HGNC NCBI

Linked Data

dbSNP Id: rs2075535361

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3636611C>T , CM000679.2:g.3636611C>T GRCh38
NC_000017.10:g.3539905C>T , CM000679.1:g.3539905C>T GRCh37
NC_000017.9:g.3486654C>T NCBI36
NG_012489.1:g.5144C>T
NG_052852.1:g.4712G>A
NG_012489.2:g.5144C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381870.8:c.-327C>T ENSP00000371294.3:n.-327C>T
ENST00000673965.1:c.-322C>T ENSP00000500995.1:n.-322C>T
ENST00000046640.7:c.-450C>T ENSP00000046640.3:n.-450C>T
ENST00000381870.7:c.-327C>T ENSP00000371294.3:n.-327C>T
NM_001031681.2:c.-327C>T NP_001026851.2:n.-327C>T
NM_004937.2:c.-450C>T NP_004928.2:n.-450C>T
XM_005256485.1:c.-450C>T XP_005256542.1:n.-450C>T
XM_006721463.1:c.-322C>T XP_006721526.1:n.-322C>T
XM_006721464.1:c.-806C>T XP_006721527.1:n.-806C>T
XM_011523692.1:c.-811C>T XP_011521994.1:n.-811C>T
XR_934003.1:n.144C>T
XM_005256485.3:c.-450C>T XP_005256542.1:n.-450C>T
XM_006721463.3:c.-322C>T XP_006721526.1:n.-322C>T
XM_006721464.2:c.-806C>T XP_006721527.1:n.-806C>T
XM_011523692.2:c.-811C>T XP_011521994.1:n.-811C>T
XM_017024254.1:c.-727C>T XP_016879743.1:n.-727C>T
XM_017024255.1:c.-806C>T XP_016879744.1:n.-806C>T
XM_017024256.1:c.-811C>T XP_016879745.1:n.-811C>T
XM_017024257.1:c.-727C>T XP_016879746.1:n.-727C>T
XM_017024258.1:c.-726C>T XP_016879747.1:n.-726C>T
NM_001031681.3:c.-327C>T NP_001026851.2:n.-327C>T