Canonical Allele Identifier: CA6327347

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs545568168
• ExAC: 11:121016792 A / G
• gnomAD v2: 11-121016792-A-G
• gnomAD v3: 11-121146083-A-G
• gnomAD v4: 11-121146083-A-G
• MyVariant Identifiers: chr11:g.121016792A>G (hg19) ; chr11:g.121146083A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121146083A>G , CM000673.2:g.121146083A>G	GRCh38
NC_000011.9:g.121016792A>G , CM000673.1:g.121016792A>G	GRCh37
NC_000011.8:g.120522002A>G	NCBI36
NG_011633.1:g.48418A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392793.6:c.4072A>G (TECTA) MANE Select	ENSP00000376543.1:p.Thr1358Ala
ENST00000642222.1:c.4072A>G (TECTA)	ENSP00000493855.1:p.Thr1358Ala
ENST00000645008.1:c.1379A>G (TECTA)
ENST00000646278.1:n.8A>G (TECTA)
ENST00000264037.2:c.4072A>G (TECTA)	ENSP00000264037.2:p.Thr1358Ala
ENST00000392793.5:c.4072A>G (TECTA)	ENSP00000376543.1:p.Thr1358Ala
ENST00000478058.1:n.637A>G (TECTA)
NM_005422.2:c.4072A>G (TECTA)	NP_005413.2:p.Thr1358Ala
NM_001378761.1:c.5029A>G (TBCEL-TECTA)	NP_001365690.1:p.Thr1677Ala
NM_005422.4:c.4072A>G (TECTA) MANE Select	NP_005413.2:p.Thr1358Ala