Canonical Allele Identifier: CA229831641
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs747095518
gnomAD v2: 11-121016619-T-G
gnomAD v4: 11-121145910-T-G
MyVariant Identifiers: chr11:g.121016619T>G (hg19) chr11:g.121145910T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145910T>G , CM000673.2:g.121145910T>G GRCh38
NC_000011.9:g.121016619T>G , CM000673.1:g.121016619T>G GRCh37
NC_000011.8:g.120521829T>G NCBI36
NG_011633.1:g.48245T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3899T>G (TECTA) MANE Select ENSP00000376543.1:p.Leu1300Arg
ENST00000642222.1:c.3899T>G (TECTA) ENSP00000493855.1:p.Leu1300Arg
ENST00000645008.1:c.1206T>G (TECTA)
ENST00000264037.2:c.3899T>G (TECTA) ENSP00000264037.2:p.Leu1300Arg
ENST00000392793.5:c.3899T>G (TECTA) ENSP00000376543.1:p.Leu1300Arg
ENST00000478058.1:n.464T>G (TECTA)
NM_005422.2:c.3899T>G (TECTA) NP_005413.2:p.Leu1300Arg
NM_001378761.1:c.4856T>G (TBCEL-TECTA) NP_001365690.1:p.Leu1619Arg
NM_005422.4:c.3899T>G (TECTA) MANE Select NP_005413.2:p.Leu1300Arg
Search 100 bp 5'
Search 100 bp 3'