Canonical Allele Identifier: CA383018685

Gene: TECTA TBCEL-TECTA

Linked Data

• MyVariant Identifiers: chr11:g.121008244G>T (hg19) ; chr11:g.121137535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121137535G>T , CM000673.2:g.121137535G>T	GRCh38
NC_000011.9:g.121008244G>T , CM000673.1:g.121008244G>T	GRCh37
NC_000011.8:g.120513454G>T	NCBI36
NG_011633.1:g.39870G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3056G>T (TECTA) MANE Select	ENSP00000376543.1:p.Cys1019Phe
ENST00000642222.1:c.3056G>T (TECTA)	ENSP00000493855.1:p.Cys1019Phe
ENST00000645008.1:c.363G>T (TECTA)
ENST00000264037.2:c.3056G>T (TECTA)	ENSP00000264037.2:p.Cys1019Phe
ENST00000392793.5:c.3056G>T (TECTA)	ENSP00000376543.1:p.Cys1019Phe
NM_005422.2:c.3056G>T (TECTA)	NP_005413.2:p.Cys1019Phe
NM_001378761.1:c.4013G>T (TBCEL-TECTA)	NP_001365690.1:p.Cys1338Phe
NM_005422.4:c.3056G>T (TECTA) MANE Select	NP_005413.2:p.Cys1019Phe