Canonical Allele Identifier: CA383022640

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1458996733
• gnomAD v2: 11-121016569-C-A
• gnomAD v4: 11-121145860-C-A
• MyVariant Identifiers: chr11:g.121016569C>A (hg19) ; chr11:g.121145860C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145860C>A , CM000673.2:g.121145860C>A	GRCh38
NC_000011.9:g.121016569C>A , CM000673.1:g.121016569C>A	GRCh37
NC_000011.8:g.120521779C>A	NCBI36
NG_011633.1:g.48195C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3849C>A (TECTA) MANE Select	ENSP00000376543.1:p.Asp1283Glu
ENST00000642222.1:c.3849C>A (TECTA)	ENSP00000493855.1:p.Asp1283Glu
ENST00000645008.1:c.1156C>A (TECTA)
ENST00000264037.2:c.3849C>A (TECTA)	ENSP00000264037.2:p.Asp1283Glu
ENST00000392793.5:c.3849C>A (TECTA)	ENSP00000376543.1:p.Asp1283Glu
ENST00000478058.1:n.414C>A (TECTA)
NM_005422.2:c.3849C>A (TECTA)	NP_005413.2:p.Asp1283Glu
NM_001378761.1:c.4806C>A (TBCEL-TECTA)	NP_001365690.1:p.Asp1602Glu
NM_005422.4:c.3849C>A (TECTA) MANE Select	NP_005413.2:p.Asp1283Glu