Canonical Allele Identifier: CA383019009
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 444274
ClinVar RCV Id: RCV000512703
dbSNP Id: rs1555125132
gnomAD v4: 11-121137607-A-C
MyVariant Identifiers: chr11:g.121008316A>C (hg19) chr11:g.121137607A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121137607A>C , CM000673.2:g.121137607A>C GRCh38
NC_000011.9:g.121008316A>C , CM000673.1:g.121008316A>C GRCh37
NC_000011.8:g.120513526A>C NCBI36
NG_011633.1:g.39942A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.3128A>C (TECTA) MANE Select ENSP00000376543.1:p.His1043Pro
ENST00000642222.1:c.3128A>C (TECTA) ENSP00000493855.1:p.His1043Pro
ENST00000645008.1:c.435A>C (TECTA)
ENST00000264037.2:c.3128A>C (TECTA) ENSP00000264037.2:p.His1043Pro
ENST00000392793.5:c.3128A>C (TECTA) ENSP00000376543.1:p.His1043Pro
NM_005422.2:c.3128A>C (TECTA) NP_005413.2:p.His1043Pro
NM_001378761.1:c.4085A>C (TBCEL-TECTA) NP_001365690.1:p.His1362Pro
NM_005422.4:c.3128A>C (TECTA) MANE Select NP_005413.2:p.His1043Pro
Search 100 bp 5'
Search 100 bp 3'