Canonical Allele Identifier: CA229829055

Gene: TECTA TBCEL-TECTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121109241G>T , CM000673.2:g.121109241G>T	GRCh38
NC_000011.9:g.120979950G>T , CM000673.1:g.120979950G>T	GRCh37
NC_000011.8:g.120485160G>T	NCBI36
NG_011633.1:g.11576G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005422.4:c.229G>T (TECTA) MANE Select	NP_005413.2:p.Val77Leu
ENST00000392793.6:c.229G>T (TECTA) MANE Select	ENSP00000376543.1:p.Val77Leu
NM_001378761.1:c.1186G>T (TBCEL-TECTA)	NP_001365690.1:p.Val396Leu
NM_005422.2:c.229G>T (TECTA)	NP_005413.2:p.Val77Leu
ENST00000264037.2:c.229G>T (TECTA)	ENSP00000264037.2:p.Val77Leu
ENST00000392793.5:c.229G>T (TECTA)	ENSP00000376543.1:p.Val77Leu
ENST00000642222.1:c.229G>T (TECTA)	ENSP00000493855.1:p.Val77Leu
ENST00000644541.1:n.1370G>T (TBCEL-TECTA)
ENST00000645041.1:c.1138G>T (TBCEL-TECTA)	ENSP00000496315.1:p.Val380Leu