Canonical Allele Identifier: CA6327088
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.121130157G>A
GRCh37 chr11:g.121000866G>A
Revel Score:
ENST00000392793 (MANE Select) 0.585
ENST00000264037 0.585
gnomAD v2:
11:121000866 G / A
gnomAD v3:
11:121130157 G / A
gnomAD v4:
chr11-121130157-G-A
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001012 (NFE)
ClinVar RCV:
RCV000225094
ClinVar Variation:
236059
dbSNP:
753896285
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121130157G>A , CM000673.2:g.121130157G>A GRCh38
NC_000011.9:g.121000866G>A , CM000673.1:g.121000866G>A GRCh37
NC_000011.8:g.120506076G>A NCBI36
NG_011633.1:g.32492G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.2887G>A (TECTA) MANE Select ENSP00000376543.1:p.Ala963Thr
ENST00000642222.1:c.2887G>A (TECTA) ENSP00000493855.1:p.Ala963Thr
ENST00000645008.1:c.194G>A (TECTA)
ENST00000264037.2:c.2887G>A (TECTA) ENSP00000264037.2:p.Ala963Thr
ENST00000392793.5:c.2887G>A (TECTA) ENSP00000376543.1:p.Ala963Thr
NM_005422.2:c.2887G>A (TECTA) NP_005413.2:p.Ala963Thr
NM_001378761.1:c.3844G>A (TBCEL-TECTA) NP_001365690.1:p.Ala1282Thr
NM_005422.4:c.2887G>A (TECTA) MANE Select NP_005413.2:p.Ala963Thr
Search 100 bp 5'
Search 100 bp 3'