Canonical Allele Identifier: CA383022789

Gene: TECTA TBCEL-TECTA

Linked Data

• MyVariant Identifiers: chr11:g.121016640A>G (hg19) ; chr11:g.121145931A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145931A>G , CM000673.2:g.121145931A>G	GRCh38
NC_000011.9:g.121016640A>G , CM000673.1:g.121016640A>G	GRCh37
NC_000011.8:g.120521850A>G	NCBI36
NG_011633.1:g.48266A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3920A>G (TECTA) MANE Select	ENSP00000376543.1:p.Gln1307Arg
ENST00000642222.1:c.3920A>G (TECTA)	ENSP00000493855.1:p.Gln1307Arg
ENST00000645008.1:c.1227A>G (TECTA)
ENST00000264037.2:c.3920A>G (TECTA)	ENSP00000264037.2:p.Gln1307Arg
ENST00000392793.5:c.3920A>G (TECTA)	ENSP00000376543.1:p.Gln1307Arg
ENST00000478058.1:n.485A>G (TECTA)
NM_005422.2:c.3920A>G (TECTA)	NP_005413.2:p.Gln1307Arg
NM_001378761.1:c.4877A>G (TBCEL-TECTA)	NP_001365690.1:p.Gln1626Arg
NM_005422.4:c.3920A>G (TECTA) MANE Select	NP_005413.2:p.Gln1307Arg