Canonical Allele Identifier: CA383022099
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 1428840
ClinVar RCV Id: RCV001936503
dbSNP Id: rs2135059469
gnomAD v4: 11-121113174-G-A
MyVariant Identifiers: chr11:g.120983883G>A (hg19) chr11:g.121113174G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121113174G>A , CM000673.2:g.121113174G>A GRCh38
NC_000011.9:g.120983883G>A , CM000673.1:g.120983883G>A GRCh37
NC_000011.8:g.120489093G>A NCBI36
NG_011633.1:g.15509G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.589G>A (TECTA) MANE Select ENSP00000376543.1:p.Asp197Asn
ENST00000642222.1:c.589G>A (TECTA) ENSP00000493855.1:p.Asp197Asn
ENST00000264037.2:c.589G>A (TECTA) ENSP00000264037.2:p.Asp197Asn
ENST00000392793.5:c.589G>A (TECTA) ENSP00000376543.1:p.Asp197Asn
NM_005422.2:c.589G>A (TECTA) NP_005413.2:p.Asp197Asn
NM_001378761.1:c.1546G>A (TBCEL-TECTA) NP_001365690.1:p.Asp516Asn
NM_005422.4:c.589G>A (TECTA) MANE Select NP_005413.2:p.Asp197Asn
Search 100 bp 5'
Search 100 bp 3'