Canonical Allele Identifier: CA229848056
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs556821586
gnomAD v2: 11-121033258-G-A
gnomAD v3: 11-121162549-G-A
gnomAD v4: 11-121162549-G-A
MyVariant Identifiers: chr11:g.121033258G>A (hg19) chr11:g.121162549G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162549G>A , CM000673.2:g.121162549G>A GRCh38
NC_000011.9:g.121033258G>A , CM000673.1:g.121033258G>A GRCh37
NC_000011.8:g.120538468G>A NCBI36
NG_011633.1:g.64884G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5272+179G>A (TECTA) MANE Select ENSP00000376543.1:n.5272+179G>A
ENST00000642222.1:c.5257+179G>A (TECTA) ENSP00000493855.1:n.5257+179G>A
ENST00000645008.1:c.2564+179G>A (TECTA)
ENST00000646278.1:n.1193+179G>A (TECTA)
ENST00000264037.2:c.5272+179G>A (TECTA) ENSP00000264037.2:n.5272+179G>A
ENST00000392793.5:c.5272+179G>A (TECTA) ENSP00000376543.1:n.5272+179G>A
NM_005422.2:c.5272+179G>A (TECTA) NP_005413.2:n.5272+179G>A
NM_001378761.1:c.6214+179G>A (TBCEL-TECTA) NP_001365690.1:n.6214+179G>A
NM_005422.4:c.5272+179G>A (TECTA) MANE Select NP_005413.2:n.5272+179G>A
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