Canonical Allele Identifier: CA6327349
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 498538
ClinVar RCV Id: RCV000593220 RCV000602678 RCV000778309 RCV000778310 RCV001089678
dbSNP Id: rs199638531
ExAC: 11:121016805 G / A
gnomAD v2: 11-121016805-G-A
gnomAD v3: 11-121146096-G-A
gnomAD v4: 11-121146096-G-A
MyVariant Identifiers: chr11:g.121016805G>A (hg19) chr11:g.121146096G>A (hg38)
ERepo: CA6327349/MONDO:0019497/005
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121146096G>A , CM000673.2:g.121146096G>A GRCh38
NC_000011.9:g.121016805G>A , CM000673.1:g.121016805G>A GRCh37
NC_000011.8:g.120522015G>A NCBI36
NG_011633.1:g.48431G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.4085G>A (TECTA) MANE Select ENSP00000376543.1:p.Trp1362Ter
ENST00000642222.1:c.4085G>A (TECTA) ENSP00000493855.1:p.Trp1362Ter
ENST00000645008.1:c.1392G>A (TECTA)
ENST00000646278.1:n.21G>A (TECTA)
ENST00000264037.2:c.4085G>A (TECTA) ENSP00000264037.2:p.Trp1362Ter
ENST00000392793.5:c.4085G>A (TECTA) ENSP00000376543.1:p.Trp1362Ter
ENST00000478058.1:n.650G>A (TECTA)
NM_005422.2:c.4085G>A (TECTA) NP_005413.2:p.Trp1362Ter
NM_001378761.1:c.5042G>A (TBCEL-TECTA) NP_001365690.1:p.Trp1681Ter
NM_005422.4:c.4085G>A (TECTA) MANE Select NP_005413.2:p.Trp1362Ter
Search 100 bp 5'
Search 100 bp 3'