Canonical Allele Identifier: CA182505
Community Standard Title: NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121113629A>G , CM000673.2:g.121113629A>G GRCh38
NC_000011.9:g.120984338A>G , CM000673.1:g.120984338A>G GRCh37
NC_000011.8:g.120489548A>G NCBI36
NG_011633.1:g.15964A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005422.4:c.701A>G (TECTA) MANE Select NP_005413.2:p.Gln234Arg
ENST00000392793.6:c.701A>G (TECTA) MANE Select ENSP00000376543.1:p.Gln234Arg
NM_001378761.1:c.1658A>G (TBCEL-TECTA) NP_001365690.1:p.Gln553Arg
NM_005422.2:c.701A>G (TECTA) NP_005413.2:p.Gln234Arg
ENST00000264037.2:c.701A>G (TECTA) ENSP00000264037.2:p.Gln234Arg
ENST00000392793.5:c.701A>G (TECTA) ENSP00000376543.1:p.Gln234Arg
ENST00000642222.1:c.701A>G (TECTA) ENSP00000493855.1:p.Gln234Arg