Canonical Allele Identifier: CA178100
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 165363
ClinVar RCV Id: RCV000151979
dbSNP Id: rs727503461
ExAC: 11:121016787 G / A
gnomAD v2: 11-121016787-G-A
gnomAD v3: 11-121146078-G-A
gnomAD v4: 11-121146078-G-A
MyVariant Identifiers: chr11:g.121016787G>A (hg19) chr11:g.121146078G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121146078G>A , CM000673.2:g.121146078G>A GRCh38
NC_000011.9:g.121016787G>A , CM000673.1:g.121016787G>A GRCh37
NC_000011.8:g.120521997G>A NCBI36
NG_011633.1:g.48413G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.4067G>A (TECTA) MANE Select ENSP00000376543.1:p.Gly1356Glu
ENST00000642222.1:c.4067G>A (TECTA) ENSP00000493855.1:p.Gly1356Glu
ENST00000645008.1:c.1374G>A (TECTA)
ENST00000646278.1:n.3G>A (TECTA)
ENST00000264037.2:c.4067G>A (TECTA) ENSP00000264037.2:p.Gly1356Glu
ENST00000392793.5:c.4067G>A (TECTA) ENSP00000376543.1:p.Gly1356Glu
ENST00000478058.1:n.632G>A (TECTA)
NM_005422.2:c.4067G>A (TECTA) NP_005413.2:p.Gly1356Glu
NM_001378761.1:c.5024G>A (TBCEL-TECTA) NP_001365690.1:p.Gly1675Glu
NM_005422.4:c.4067G>A (TECTA) MANE Select NP_005413.2:p.Gly1356Glu
Search 100 bp 5'
Search 100 bp 3'