Canonical Allele Identifier: CA383031554
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162150G>T , CM000673.2:g.121162150G>T GRCh38
NC_000011.9:g.121032859G>T , CM000673.1:g.121032859G>T GRCh37
NC_000011.8:g.120538069G>T NCBI36
NG_011633.1:g.64485G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5052G>T (TECTA) MANE Select ENSP00000376543.1:p.Lys1684Asn
ENST00000642222.1:c.5037G>T (TECTA) ENSP00000493855.1:p.Lys1679Asn
ENST00000645008.1:c.2344G>T (TECTA)
ENST00000646278.1:n.973G>T (TECTA)
ENST00000264037.2:c.5052G>T (TECTA) ENSP00000264037.2:p.Lys1684Asn
ENST00000392793.5:c.5052G>T (TECTA) ENSP00000376543.1:p.Lys1684Asn
NM_005422.2:c.5052G>T (TECTA) NP_005413.2:p.Lys1684Asn
NM_001378761.1:c.5994G>T (TBCEL-TECTA) NP_001365690.1:p.Lys1998Asn
NM_005422.4:c.5052G>T (TECTA) MANE Select NP_005413.2:p.Lys1684Asn