Canonical Allele Identifier: CA5620769

Gene: TCTN3

Linked Data

• ClinVar Variation Id: 499913
• ClinVar RCV Id: RCV000727096 ; RCV001088953 ; RCV002531055
• dbSNP Id: rs181107730
• ExAC: 10:97424062 G / A
• gnomAD v2: 10-97424062-G-A
• gnomAD v3: 10-95664305-G-A
• gnomAD v4: 10-95664305-G-A
• MyVariant Identifiers: chr10:g.97424062G>A (hg19) ; chr10:g.95664305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95664305G>A , CM000672.2:g.95664305G>A	GRCh38
NC_000010.10:g.97424062G>A , CM000672.1:g.97424062G>A	GRCh37
NC_000010.9:g.97414052G>A	NCBI36
NG_032953.1:g.34839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371217.10:c.1591-5C>T MANE Select	ENSP00000360261.5:n.1591-5C>T
ENST00000614499.5:c.1630-5C>T	ENSP00000483364.2:n.1630-5C>T
ENST00000679984.1:c.*831-5C>T	ENSP00000504998.1:n.*831-5C>T
ENST00000680144.1:c.1495-5C>T	ENSP00000506398.1:n.1495-5C>T
ENST00000680353.1:c.1342-5C>T	ENSP00000505367.1:n.1342-5C>T
ENST00000680697.1:n.1786-5C>T
ENST00000680709.1:c.1339-5C>T	ENSP00000505830.1:n.1339-5C>T
ENST00000680781.1:c.248-5C>T
ENST00000681185.1:n.293-5C>T
ENST00000681739.1:n.1972-5C>T
ENST00000681928.1:c.*131-5C>T	ENSP00000505552.1:n.*131-5C>T
ENST00000265993.13:c.1645-5C>T	ENSP00000265993.9:n.1645-5C>T
ENST00000371217.9:c.1591-5C>T	ENSP00000360261.5:n.1591-5C>T
ENST00000430368.6:c.1147-5C>T	ENSP00000387567.1:n.1147-5C>T
ENST00000614499.4:c.1591-5C>T	ENSP00000483364.1:n.1591-5C>T
NM_001143973.1:c.1147-5C>T	NP_001137445.1:n.1147-5C>T
NM_015631.5:c.1591-5C>T	NP_056446.4:n.1591-5C>T
XM_005269690.1:c.1564-5C>T	XP_005269747.1:n.1564-5C>T
XM_011539627.1:c.1630-5C>T	XP_011537929.1:n.1630-5C>T
XM_011539628.1:c.1507-5C>T	XP_011537930.1:n.1507-5C>T
XM_005269690.2:c.1564-5C>T	XP_005269747.1:n.1564-5C>T
XM_011539627.2:c.1630-5C>T	XP_011537929.1:n.1630-5C>T
XM_011539628.2:c.1507-5C>T	XP_011537930.1:n.1507-5C>T
XM_024447935.1:c.1549-5C>T	XP_024303703.1:n.1549-5C>T
NM_015631.6:c.1591-5C>T MANE Select	NP_056446.4:n.1591-5C>T
NM_001143973.2:c.1147-5C>T	NP_001137445.1:n.1147-5C>T