Canonical Allele Identifier: CA477382854
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.121016464T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145755T>G , CM000673.2:g.121145755T>G GRCh38
NC_000011.9:g.121016464T>G , CM000673.1:g.121016464T>G GRCh37
NC_000011.8:g.120521674T>G NCBI36
NG_011633.1:g.48090T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3744T>G (TECTA) MANE Select ENSP00000376543.1:p.Pro1248=
ENST00000642222.1:c.3744T>G (TECTA) ENSP00000493855.1:p.Pro1248=
ENST00000645008.1:c.1051T>G (TECTA)
ENST00000264037.2:c.3744T>G (TECTA) ENSP00000264037.2:p.Pro1248=
ENST00000392793.5:c.3744T>G (TECTA) ENSP00000376543.1:p.Pro1248=
ENST00000478058.1:n.309T>G (TECTA)
NM_005422.2:c.3744T>G (TECTA) NP_005413.2:p.Pro1248=
NM_001378761.1:c.4701T>G (TBCEL-TECTA) NP_001365690.1:p.Pro1567=
NM_005422.4:c.3744T>G (TECTA) MANE Select NP_005413.2:p.Pro1248=