Canonical Allele Identifier: CA6327709
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 1178462
ClinVar RCV Id: RCV001534750
dbSNP Id: rs754213928
ExAC: 11:121036081 C / G
gnomAD v2: 11-121036081-C-G
gnomAD v3: 11-121165372-C-G
gnomAD v4: 11-121165372-C-G
MyVariant Identifiers: chr11:g.121036081C>G (hg19) chr11:g.121165372C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121165372C>G , CM000673.2:g.121165372C>G GRCh38
NC_000011.9:g.121036081C>G , CM000673.1:g.121036081C>G GRCh37
NC_000011.8:g.120541291C>G NCBI36
NG_011633.1:g.67707C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.5372C>G (TECTA) MANE Select ENSP00000376543.1:p.Pro1791Arg
ENST00000642222.1:c.5357C>G (TECTA) ENSP00000493855.1:p.Pro1786Arg
ENST00000645008.1:c.2664C>G (TECTA)
ENST00000646278.1:n.1293C>G (TECTA)
ENST00000264037.2:c.5372C>G (TECTA) ENSP00000264037.2:p.Pro1791Arg
ENST00000392793.5:c.5372C>G (TECTA) ENSP00000376543.1:p.Pro1791Arg
NM_005422.2:c.5372C>G (TECTA) NP_005413.2:p.Pro1791Arg
NM_001378761.1:c.6314C>G (TBCEL-TECTA) NP_001365690.1:p.Pro2105Arg
NM_005422.4:c.5372C>G (TECTA) MANE Select NP_005413.2:p.Pro1791Arg
Search 100 bp 5'
Search 100 bp 3'