Canonical Allele Identifier: CA383021706
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs2135106170
gnomAD v3: 11-121145688-C-T
gnomAD v4: 11-121145688-C-T
COSMIC: COSM223504
MyVariant Identifiers: chr11:g.121016397C>T (hg19) chr11:g.121145688C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145688C>T , CM000673.2:g.121145688C>T GRCh38
NC_000011.9:g.121016397C>T , CM000673.1:g.121016397C>T GRCh37
NC_000011.8:g.120521607C>T NCBI36
NG_011633.1:g.48023C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3677C>T (TECTA) MANE Select ENSP00000376543.1:p.Ser1226Phe
ENST00000642222.1:c.3677C>T (TECTA) ENSP00000493855.1:p.Ser1226Phe
ENST00000645008.1:c.984C>T (TECTA)
ENST00000264037.2:c.3677C>T (TECTA) ENSP00000264037.2:p.Ser1226Phe
ENST00000392793.5:c.3677C>T (TECTA) ENSP00000376543.1:p.Ser1226Phe
ENST00000478058.1:n.242C>T (TECTA)
NM_005422.2:c.3677C>T (TECTA) NP_005413.2:p.Ser1226Phe
NM_001378761.1:c.4634C>T (TBCEL-TECTA) NP_001365690.1:p.Ser1545Phe
NM_005422.4:c.3677C>T (TECTA) MANE Select NP_005413.2:p.Ser1226Phe
Search 100 bp 5'
Search 100 bp 3'