Canonical Allele Identifier: CA477382943
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs567915339
gnomAD v4: 11-121145911-G-A
MyVariant Identifiers: chr11:g.121016620G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145911G>A , CM000673.2:g.121145911G>A GRCh38
NC_000011.9:g.121016620G>A , CM000673.1:g.121016620G>A GRCh37
NC_000011.8:g.120521830G>A NCBI36
NG_011633.1:g.48246G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3900G>A (TECTA) MANE Select ENSP00000376543.1:p.Leu1300=
ENST00000642222.1:c.3900G>A (TECTA) ENSP00000493855.1:p.Leu1300=
ENST00000645008.1:c.1207G>A (TECTA)
ENST00000264037.2:c.3900G>A (TECTA) ENSP00000264037.2:p.Leu1300=
ENST00000392793.5:c.3900G>A (TECTA) ENSP00000376543.1:p.Leu1300=
ENST00000478058.1:n.465G>A (TECTA)
NM_005422.2:c.3900G>A (TECTA) NP_005413.2:p.Leu1300=
NM_001378761.1:c.4857G>A (TBCEL-TECTA) NP_001365690.1:p.Leu1619=
NM_005422.4:c.3900G>A (TECTA) MANE Select NP_005413.2:p.Leu1300=
Search 100 bp 5'
Search 100 bp 3'