Canonical Allele Identifier: CA6327546
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs751722595
ExAC: 11:121030831 C / A
gnomAD v2: 11-121030831-C-A
gnomAD v4: 11-121160122-C-A
MyVariant Identifiers: chr11:g.121030831C>A (hg19) chr11:g.121160122C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121160122C>A , CM000673.2:g.121160122C>A GRCh38
NC_000011.9:g.121030831C>A , CM000673.1:g.121030831C>A GRCh37
NC_000011.8:g.120536041C>A NCBI36
NG_011633.1:g.62457C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.4690-13C>A (TECTA) MANE Select ENSP00000376543.1:n.4690-13C>A
ENST00000642222.1:c.4690-13C>A (TECTA) ENSP00000493855.1:n.4690-13C>A
ENST00000645008.1:c.1997-13C>A (TECTA)
ENST00000646278.1:n.626-13C>A (TECTA)
ENST00000264037.2:c.4690-13C>A (TECTA) ENSP00000264037.2:n.4690-13C>A
ENST00000392793.5:c.4690-13C>A (TECTA) ENSP00000376543.1:n.4690-13C>A
NM_005422.2:c.4690-13C>A (TECTA) NP_005413.2:n.4690-13C>A
NM_001378761.1:c.5647-13C>A (TBCEL-TECTA) NP_001365690.1:n.5647-13C>A
NM_005422.4:c.4690-13C>A (TECTA) MANE Select NP_005413.2:n.4690-13C>A
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