Canonical Allele Identifier: CA6327682
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 1710866
ClinVar RCV Id: RCV002292153
dbSNP Id: rs769559125
ExAC: 11:121033055 G / C
gnomAD v2: 11-121033055-G-C
gnomAD v3: 11-121162346-G-C
gnomAD v4: 11-121162346-G-C
MyVariant Identifiers: chr11:g.121033055G>C (hg19) chr11:g.121162346G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162346G>C , CM000673.2:g.121162346G>C GRCh38
NC_000011.9:g.121033055G>C , CM000673.1:g.121033055G>C GRCh37
NC_000011.8:g.120538265G>C NCBI36
NG_011633.1:g.64681G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5248G>C (TECTA) MANE Select ENSP00000376543.1:p.Glu1750Gln
ENST00000642222.1:c.5233G>C (TECTA) ENSP00000493855.1:p.Glu1745Gln
ENST00000645008.1:c.2540G>C (TECTA)
ENST00000646278.1:n.1169G>C (TECTA)
ENST00000264037.2:c.5248G>C (TECTA) ENSP00000264037.2:p.Glu1750Gln
ENST00000392793.5:c.5248G>C (TECTA) ENSP00000376543.1:p.Glu1750Gln
NM_005422.2:c.5248G>C (TECTA) NP_005413.2:p.Glu1750Gln
NM_001378761.1:c.6190G>C (TBCEL-TECTA) NP_001365690.1:p.Glu2064Gln
NM_005422.4:c.5248G>C (TECTA) MANE Select NP_005413.2:p.Glu1750Gln
Search 100 bp 5'
Search 100 bp 3'