Canonical Allele Identifier: CA383022969

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1946833636
• gnomAD v4: 11-121146009-T-C
• MyVariant Identifiers: chr11:g.121016718T>C (hg19) ; chr11:g.121146009T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121146009T>C , CM000673.2:g.121146009T>C	GRCh38
NC_000011.9:g.121016718T>C , CM000673.1:g.121016718T>C	GRCh37
NC_000011.8:g.120521928T>C	NCBI36
NG_011633.1:g.48344T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3998T>C (TECTA) MANE Select	ENSP00000376543.1:p.Ile1333Thr
ENST00000642222.1:c.3998T>C (TECTA)	ENSP00000493855.1:p.Ile1333Thr
ENST00000645008.1:c.1305T>C (TECTA)
ENST00000264037.2:c.3998T>C (TECTA)	ENSP00000264037.2:p.Ile1333Thr
ENST00000392793.5:c.3998T>C (TECTA)	ENSP00000376543.1:p.Ile1333Thr
ENST00000478058.1:n.563T>C (TECTA)
NM_005422.2:c.3998T>C (TECTA)	NP_005413.2:p.Ile1333Thr
NM_001378761.1:c.4955T>C (TBCEL-TECTA)	NP_001365690.1:p.Ile1652Thr
NM_005422.4:c.3998T>C (TECTA) MANE Select	NP_005413.2:p.Ile1333Thr