Canonical Allele Identifier: CA383022883

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1162752848
• gnomAD v2: 11-121016682-C-G
• gnomAD v4: 11-121145973-C-G
• MyVariant Identifiers: chr11:g.121016682C>G (hg19) ; chr11:g.121145973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145973C>G , CM000673.2:g.121145973C>G	GRCh38
NC_000011.9:g.121016682C>G , CM000673.1:g.121016682C>G	GRCh37
NC_000011.8:g.120521892C>G	NCBI36
NG_011633.1:g.48308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3962C>G (TECTA) MANE Select	ENSP00000376543.1:p.Thr1321Ser
ENST00000642222.1:c.3962C>G (TECTA)	ENSP00000493855.1:p.Thr1321Ser
ENST00000645008.1:c.1269C>G (TECTA)
ENST00000264037.2:c.3962C>G (TECTA)	ENSP00000264037.2:p.Thr1321Ser
ENST00000392793.5:c.3962C>G (TECTA)	ENSP00000376543.1:p.Thr1321Ser
ENST00000478058.1:n.527C>G (TECTA)
NM_005422.2:c.3962C>G (TECTA)	NP_005413.2:p.Thr1321Ser
NM_001378761.1:c.4919C>G (TBCEL-TECTA)	NP_001365690.1:p.Thr1640Ser
NM_005422.4:c.3962C>G (TECTA) MANE Select	NP_005413.2:p.Thr1321Ser