Canonical Allele Identifier: CA624535334

Gene: CTNS

Linked Data

• dbSNP Id: rs1164049108
• gnomAD v2: 17-3539892-C-T
• gnomAD v3: 17-3636598-C-T
• gnomAD v4: 17-3636598-C-T
• MyVariant Identifiers: chr17:g.3539892C>T (hg19) ; chr17:g.3636598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636598C>T , CM000679.2:g.3636598C>T	GRCh38
NC_000017.10:g.3539892C>T , CM000679.1:g.3539892C>T	GRCh37
NC_000017.9:g.3486641C>T	NCBI36
NG_012489.1:g.5131C>T
NG_052852.1:g.4725G>A
NG_012489.2:g.5131C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-340C>T	ENSP00000371294.3:n.-340C>T
ENST00000673965.1:c.-335C>T	ENSP00000500995.1:n.-335C>T
ENST00000046640.7:c.-463C>T	ENSP00000046640.3:n.-463C>T
ENST00000381870.7:c.-340C>T	ENSP00000371294.3:n.-340C>T
NM_001031681.2:c.-340C>T	NP_001026851.2:n.-340C>T
NM_004937.2:c.-463C>T	NP_004928.2:n.-463C>T
XM_005256485.1:c.-463C>T	XP_005256542.1:n.-463C>T
XM_006721463.1:c.-335C>T	XP_006721526.1:n.-335C>T
XM_006721464.1:c.-819C>T	XP_006721527.1:n.-819C>T
XM_011523692.1:c.-824C>T	XP_011521994.1:n.-824C>T
XR_934003.1:n.131C>T
XM_005256485.3:c.-463C>T	XP_005256542.1:n.-463C>T
XM_006721463.3:c.-335C>T	XP_006721526.1:n.-335C>T
XM_006721464.2:c.-819C>T	XP_006721527.1:n.-819C>T
XM_011523692.2:c.-824C>T	XP_011521994.1:n.-824C>T
XM_017024254.1:c.-740C>T	XP_016879743.1:n.-740C>T
XM_017024255.1:c.-819C>T	XP_016879744.1:n.-819C>T
XM_017024256.1:c.-824C>T	XP_016879745.1:n.-824C>T
XM_017024257.1:c.-740C>T	XP_016879746.1:n.-740C>T
XM_017024258.1:c.-739C>T	XP_016879747.1:n.-739C>T
NM_001031681.3:c.-340C>T	NP_001026851.2:n.-340C>T