Canonical Allele Identifier: CA383022852

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1946831947
• gnomAD v3: 11-121145959-C-A
• gnomAD v4: 11-121145959-C-A
• MyVariant Identifiers: chr11:g.121016668C>A (hg19) ; chr11:g.121145959C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145959C>A , CM000673.2:g.121145959C>A	GRCh38
NC_000011.9:g.121016668C>A , CM000673.1:g.121016668C>A	GRCh37
NC_000011.8:g.120521878C>A	NCBI36
NG_011633.1:g.48294C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3948C>A (TECTA) MANE Select	ENSP00000376543.1:p.Ser1316Arg
ENST00000642222.1:c.3948C>A (TECTA)	ENSP00000493855.1:p.Ser1316Arg
ENST00000645008.1:c.1255C>A (TECTA)
ENST00000264037.2:c.3948C>A (TECTA)	ENSP00000264037.2:p.Ser1316Arg
ENST00000392793.5:c.3948C>A (TECTA)	ENSP00000376543.1:p.Ser1316Arg
ENST00000478058.1:n.513C>A (TECTA)
NM_005422.2:c.3948C>A (TECTA)	NP_005413.2:p.Ser1316Arg
NM_001378761.1:c.4905C>A (TBCEL-TECTA)	NP_001365690.1:p.Ser1635Arg
NM_005422.4:c.3948C>A (TECTA) MANE Select	NP_005413.2:p.Ser1316Arg