Canonical Allele Identifier: CA6327326
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 287165
ClinVar RCV Id: RCV000297123 RCV000725957 RCV000787979
dbSNP Id: rs148619105
ExAC: 11:121016724 G / A
gnomAD v2: 11-121016724-G-A
gnomAD v3: 11-121146015-G-A
gnomAD v4: 11-121146015-G-A
MyVariant Identifiers: chr11:g.121016724G>A (hg19) chr11:g.121146015G>A (hg38)
ERepo: CA6327326/MONDO:0019497/005
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121146015G>A , CM000673.2:g.121146015G>A GRCh38
NC_000011.9:g.121016724G>A , CM000673.1:g.121016724G>A GRCh37
NC_000011.8:g.120521934G>A NCBI36
NG_011633.1:g.48350G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.4004G>A (TECTA) MANE Select ENSP00000376543.1:p.Gly1335Glu
ENST00000642222.1:c.4004G>A (TECTA) ENSP00000493855.1:p.Gly1335Glu
ENST00000645008.1:c.1311G>A (TECTA)
ENST00000264037.2:c.4004G>A (TECTA) ENSP00000264037.2:p.Gly1335Glu
ENST00000392793.5:c.4004G>A (TECTA) ENSP00000376543.1:p.Gly1335Glu
ENST00000478058.1:n.569G>A (TECTA)
NM_005422.2:c.4004G>A (TECTA) NP_005413.2:p.Gly1335Glu
NM_001378761.1:c.4961G>A (TBCEL-TECTA) NP_001365690.1:p.Gly1654Glu
NM_005422.4:c.4004G>A (TECTA) MANE Select NP_005413.2:p.Gly1335Glu
Search 100 bp 5'
Search 100 bp 3'