Canonical Allele Identifier: CA136046
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 45328
ClinVar RCV Id: RCV000038493 RCV000967245
dbSNP Id: rs141674508
ExAC: 11:121016794 G / A
gnomAD v2: 11-121016794-G-A
gnomAD v3: 11-121146085-G-A
gnomAD v4: 11-121146085-G-A
MyVariant Identifiers: chr11:g.121016794G>A (hg19) chr11:g.121146085G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121146085G>A , CM000673.2:g.121146085G>A GRCh38
NC_000011.9:g.121016794G>A , CM000673.1:g.121016794G>A GRCh37
NC_000011.8:g.120522004G>A NCBI36
NG_011633.1:g.48420G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.4074G>A (TECTA) MANE Select ENSP00000376543.1:p.Thr1358=
ENST00000642222.1:c.4074G>A (TECTA) ENSP00000493855.1:p.Thr1358=
ENST00000645008.1:c.1381G>A (TECTA)
ENST00000646278.1:n.10G>A (TECTA)
ENST00000264037.2:c.4074G>A (TECTA) ENSP00000264037.2:p.Thr1358=
ENST00000392793.5:c.4074G>A (TECTA) ENSP00000376543.1:p.Thr1358=
ENST00000478058.1:n.639G>A (TECTA)
NM_005422.2:c.4074G>A (TECTA) NP_005413.2:p.Thr1358=
NM_001378761.1:c.5031G>A (TBCEL-TECTA) NP_001365690.1:p.Thr1677=
NM_005422.4:c.4074G>A (TECTA) MANE Select NP_005413.2:p.Thr1358=
Search 100 bp 5'
Search 100 bp 3'