Canonical Allele Identifier: CA383032309
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 2633245
ClinVar RCV Id: RCV003408457
gnomAD v4: 11-121162341-G-A
MyVariant Identifiers: chr11:g.121033050G>A (hg19) chr11:g.121162341G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162341G>A , CM000673.2:g.121162341G>A GRCh38
NC_000011.9:g.121033050G>A , CM000673.1:g.121033050G>A GRCh37
NC_000011.8:g.120538260G>A NCBI36
NG_011633.1:g.64676G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5243G>A (TECTA) MANE Select ENSP00000376543.1:p.Ser1748Asn
ENST00000642222.1:c.5228G>A (TECTA) ENSP00000493855.1:p.Ser1743Asn
ENST00000645008.1:c.2535G>A (TECTA)
ENST00000646278.1:n.1164G>A (TECTA)
ENST00000264037.2:c.5243G>A (TECTA) ENSP00000264037.2:p.Ser1748Asn
ENST00000392793.5:c.5243G>A (TECTA) ENSP00000376543.1:p.Ser1748Asn
NM_005422.2:c.5243G>A (TECTA) NP_005413.2:p.Ser1748Asn
NM_001378761.1:c.6185G>A (TBCEL-TECTA) NP_001365690.1:p.Ser2062Asn
NM_005422.4:c.5243G>A (TECTA) MANE Select NP_005413.2:p.Ser1748Asn
Search 100 bp 5'
Search 100 bp 3'