Canonical Allele Identifier: CA477383498
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs1158436318
gnomAD v2: 11-121033057-G-A
gnomAD v4: 11-121162348-G-A
MyVariant Identifiers: chr11:g.121033057G>A (hg19) chr11:g.121162348G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162348G>A , CM000673.2:g.121162348G>A GRCh38
NC_000011.9:g.121033057G>A , CM000673.1:g.121033057G>A GRCh37
NC_000011.8:g.120538267G>A NCBI36
NG_011633.1:g.64683G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5250G>A (TECTA) MANE Select ENSP00000376543.1:p.Glu1750=
ENST00000642222.1:c.5235G>A (TECTA) ENSP00000493855.1:p.Glu1745=
ENST00000645008.1:c.2542G>A (TECTA)
ENST00000646278.1:n.1171G>A (TECTA)
ENST00000264037.2:c.5250G>A (TECTA) ENSP00000264037.2:p.Glu1750=
ENST00000392793.5:c.5250G>A (TECTA) ENSP00000376543.1:p.Glu1750=
NM_005422.2:c.5250G>A (TECTA) NP_005413.2:p.Glu1750=
NM_001378761.1:c.6192G>A (TBCEL-TECTA) NP_001365690.1:p.Glu2064=
NM_005422.4:c.5250G>A (TECTA) MANE Select NP_005413.2:p.Glu1750=
Search 100 bp 5'
Search 100 bp 3'