Canonical Allele Identifier: CA728465535

Gene: CTNS

Linked Data

• dbSNP Id: rs1316316179
• gnomAD v4: 17-3636507-G-T
• MyVariant Identifiers: chr17:g.3539801G>T (hg19) ; chr17:g.3636507G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636507G>T , CM000679.2:g.3636507G>T	GRCh38
NC_000017.10:g.3539801G>T , CM000679.1:g.3539801G>T	GRCh37
NC_000017.9:g.3486550G>T	NCBI36
NG_012489.1:g.5040G>T
NG_052852.1:g.4816C>A
NG_012489.2:g.5040G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-431G>T	ENSP00000371294.3:n.-431G>T
ENST00000673965.1:c.-426G>T	ENSP00000500995.1:n.-426G>T
ENST00000046640.7:c.-554G>T	ENSP00000046640.3:n.-554G>T
ENST00000381870.7:c.-431G>T	ENSP00000371294.3:n.-431G>T
NM_001031681.2:c.-431G>T	NP_001026851.2:n.-431G>T
NM_004937.2:c.-554G>T	NP_004928.2:n.-554G>T
XM_005256485.1:c.-554G>T	XP_005256542.1:n.-554G>T
XM_006721463.1:c.-426G>T	XP_006721526.1:n.-426G>T
XM_006721464.1:c.-910G>T	XP_006721527.1:n.-910G>T
XM_011523692.1:c.-915G>T	XP_011521994.1:n.-915G>T
XR_934003.1:n.40G>T
XM_005256485.3:c.-554G>T	XP_005256542.1:n.-554G>T
XM_006721463.3:c.-426G>T	XP_006721526.1:n.-426G>T
XM_006721464.2:c.-910G>T	XP_006721527.1:n.-910G>T
XM_011523692.2:c.-915G>T	XP_011521994.1:n.-915G>T
XM_017024254.1:c.-831G>T	XP_016879743.1:n.-831G>T
XM_017024255.1:c.-910G>T	XP_016879744.1:n.-910G>T
XM_017024256.1:c.-915G>T	XP_016879745.1:n.-915G>T
XM_017024257.1:c.-831G>T	XP_016879746.1:n.-831G>T
XM_017024258.1:c.-830G>T	XP_016879747.1:n.-830G>T
NM_001031681.3:c.-431G>T	NP_001026851.2:n.-431G>T