Canonical Allele Identifier: CA477382580
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

gnomAD v4: 11-121137563-C-T
MyVariant Identifiers: chr11:g.121008272C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121137563C>T , CM000673.2:g.121137563C>T GRCh38
NC_000011.9:g.121008272C>T , CM000673.1:g.121008272C>T GRCh37
NC_000011.8:g.120513482C>T NCBI36
NG_011633.1:g.39898C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3084C>T (TECTA) MANE Select ENSP00000376543.1:p.Ser1028=
ENST00000642222.1:c.3084C>T (TECTA) ENSP00000493855.1:p.Ser1028=
ENST00000645008.1:c.391C>T (TECTA)
ENST00000264037.2:c.3084C>T (TECTA) ENSP00000264037.2:p.Ser1028=
ENST00000392793.5:c.3084C>T (TECTA) ENSP00000376543.1:p.Ser1028=
NM_005422.2:c.3084C>T (TECTA) NP_005413.2:p.Ser1028=
NM_001378761.1:c.4041C>T (TBCEL-TECTA) NP_001365690.1:p.Ser1347=
NM_005422.4:c.3084C>T (TECTA) MANE Select NP_005413.2:p.Ser1028=
Search 100 bp 5'
Search 100 bp 3'