Canonical Allele Identifier: CA6327284
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 1199744
ClinVar RCV Id: RCV001564520
dbSNP Id: rs202223574
ExAC: 11:121016462 C / T
gnomAD v2: 11-121016462-C-T
gnomAD v3: 11-121145753-C-T
gnomAD v4: 11-121145753-C-T
MyVariant Identifiers: chr11:g.121016462C>T (hg19) chr11:g.121145753C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145753C>T , CM000673.2:g.121145753C>T GRCh38
NC_000011.9:g.121016462C>T , CM000673.1:g.121016462C>T GRCh37
NC_000011.8:g.120521672C>T NCBI36
NG_011633.1:g.48088C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3742C>T (TECTA) MANE Select ENSP00000376543.1:p.Pro1248Ser
ENST00000642222.1:c.3742C>T (TECTA) ENSP00000493855.1:p.Pro1248Ser
ENST00000645008.1:c.1049C>T (TECTA)
ENST00000264037.2:c.3742C>T (TECTA) ENSP00000264037.2:p.Pro1248Ser
ENST00000392793.5:c.3742C>T (TECTA) ENSP00000376543.1:p.Pro1248Ser
ENST00000478058.1:n.307C>T (TECTA)
NM_005422.2:c.3742C>T (TECTA) NP_005413.2:p.Pro1248Ser
NM_001378761.1:c.4699C>T (TBCEL-TECTA) NP_001365690.1:p.Pro1567Ser
NM_005422.4:c.3742C>T (TECTA) MANE Select NP_005413.2:p.Pro1248Ser
Search 100 bp 5'
Search 100 bp 3'