Canonical Allele Identifier: CA477382407
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.121008197T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121137488T>A , CM000673.2:g.121137488T>A GRCh38
NC_000011.9:g.121008197T>A , CM000673.1:g.121008197T>A GRCh37
NC_000011.8:g.120513407T>A NCBI36
NG_011633.1:g.39823T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3009T>A (TECTA) MANE Select ENSP00000376543.1:p.Leu1003=
ENST00000642222.1:c.3009T>A (TECTA) ENSP00000493855.1:p.Leu1003=
ENST00000645008.1:c.316T>A (TECTA)
ENST00000264037.2:c.3009T>A (TECTA) ENSP00000264037.2:p.Leu1003=
ENST00000392793.5:c.3009T>A (TECTA) ENSP00000376543.1:p.Leu1003=
NM_005422.2:c.3009T>A (TECTA) NP_005413.2:p.Leu1003=
NM_001378761.1:c.3966T>A (TBCEL-TECTA) NP_001365690.1:p.Leu1322=
NM_005422.4:c.3009T>A (TECTA) MANE Select NP_005413.2:p.Leu1003=