Canonical Allele Identifier: CA6326508
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 229304
ClinVar RCV Id: RCV000217570 RCV000914564 RCV001004782
dbSNP Id: rs368627411
ExAC: 11:120983774 C / G
gnomAD v2: 11-120983774-C-G
gnomAD v3: 11-121113065-C-G
gnomAD v4: 11-121113065-C-G
MyVariant Identifiers: chr11:g.120983774C>G (hg19) chr11:g.121113065C>G (hg38)
ERepo: CA6326508/MONDO:0019497/005
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121113065C>G , CM000673.2:g.121113065C>G GRCh38
NC_000011.9:g.120983774C>G , CM000673.1:g.120983774C>G GRCh37
NC_000011.8:g.120488984C>G NCBI36
NG_011633.1:g.15400C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.487-7C>G (TECTA) MANE Select ENSP00000376543.1:n.487-7C>G
ENST00000642222.1:c.487-7C>G (TECTA) ENSP00000493855.1:n.487-7C>G
ENST00000645041.1:c.1396-7C>G (TBCEL-TECTA) ENSP00000496315.1:n.1396-7C>G
ENST00000264037.2:c.487-7C>G (TECTA) ENSP00000264037.2:n.487-7C>G
ENST00000392793.5:c.487-7C>G (TECTA) ENSP00000376543.1:n.487-7C>G
NM_005422.2:c.487-7C>G (TECTA) NP_005413.2:n.487-7C>G
NM_001378761.1:c.1444-7C>G (TBCEL-TECTA) NP_001365690.1:n.1444-7C>G
NM_005422.4:c.487-7C>G (TECTA) MANE Select NP_005413.2:n.487-7C>G
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