Canonical Allele Identifier: CA477383495
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 2113320
ClinVar RCV Id: RCV003038713
MyVariant Identifiers: chr11:g.121033051C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162342C>T , CM000673.2:g.121162342C>T GRCh38
NC_000011.9:g.121033051C>T , CM000673.1:g.121033051C>T GRCh37
NC_000011.8:g.120538261C>T NCBI36
NG_011633.1:g.64677C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5244C>T (TECTA) MANE Select ENSP00000376543.1:p.Ser1748=
ENST00000642222.1:c.5229C>T (TECTA) ENSP00000493855.1:p.Ser1743=
ENST00000645008.1:c.2536C>T (TECTA)
ENST00000646278.1:n.1165C>T (TECTA)
ENST00000264037.2:c.5244C>T (TECTA) ENSP00000264037.2:p.Ser1748=
ENST00000392793.5:c.5244C>T (TECTA) ENSP00000376543.1:p.Ser1748=
NM_005422.2:c.5244C>T (TECTA) NP_005413.2:p.Ser1748=
NM_001378761.1:c.6186C>T (TBCEL-TECTA) NP_001365690.1:p.Ser2062=
NM_005422.4:c.5244C>T (TECTA) MANE Select NP_005413.2:p.Ser1748=
Search 100 bp 5'
Search 100 bp 3'