Canonical Allele Identifier: CA383022842
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.121016664A>G (hg19) chr11:g.121145955A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145955A>G , CM000673.2:g.121145955A>G GRCh38
NC_000011.9:g.121016664A>G , CM000673.1:g.121016664A>G GRCh37
NC_000011.8:g.120521874A>G NCBI36
NG_011633.1:g.48290A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3944A>G (TECTA) MANE Select ENSP00000376543.1:p.His1315Arg
ENST00000642222.1:c.3944A>G (TECTA) ENSP00000493855.1:p.His1315Arg
ENST00000645008.1:c.1251A>G (TECTA)
ENST00000264037.2:c.3944A>G (TECTA) ENSP00000264037.2:p.His1315Arg
ENST00000392793.5:c.3944A>G (TECTA) ENSP00000376543.1:p.His1315Arg
ENST00000478058.1:n.509A>G (TECTA)
NM_005422.2:c.3944A>G (TECTA) NP_005413.2:p.His1315Arg
NM_001378761.1:c.4901A>G (TBCEL-TECTA) NP_001365690.1:p.His1634Arg
NM_005422.4:c.3944A>G (TECTA) MANE Select NP_005413.2:p.His1315Arg
Search 100 bp 5'
Search 100 bp 3'