Canonical Allele Identifier: CA383028293
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.121030884T>C (hg19) chr11:g.121160175T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121160175T>C , CM000673.2:g.121160175T>C GRCh38
NC_000011.9:g.121030884T>C , CM000673.1:g.121030884T>C GRCh37
NC_000011.8:g.120536094T>C NCBI36
NG_011633.1:g.62510T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.4730T>C (TECTA) MANE Select ENSP00000376543.1:p.Leu1577Ser
ENST00000642222.1:c.4730T>C (TECTA) ENSP00000493855.1:p.Leu1577Ser
ENST00000645008.1:c.2037T>C (TECTA)
ENST00000646278.1:n.666T>C (TECTA)
ENST00000264037.2:c.4730T>C (TECTA) ENSP00000264037.2:p.Leu1577Ser
ENST00000392793.5:c.4730T>C (TECTA) ENSP00000376543.1:p.Leu1577Ser
NM_005422.2:c.4730T>C (TECTA) NP_005413.2:p.Leu1577Ser
NM_001378761.1:c.5687T>C (TBCEL-TECTA) NP_001365690.1:p.Leu1896Ser
NM_005422.4:c.4730T>C (TECTA) MANE Select NP_005413.2:p.Leu1577Ser
Search 100 bp 5'
Search 100 bp 3'