Canonical Allele Identifier: CA672616858

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs866889413
• gnomAD v3: 11-121160078-C-G
• gnomAD v4: 11-121160078-C-G
• MyVariant Identifiers: chr11:g.121030787C>G (hg19) ; chr11:g.121160078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121160078C>G , CM000673.2:g.121160078C>G	GRCh38
NC_000011.9:g.121030787C>G , CM000673.1:g.121030787C>G	GRCh37
NC_000011.8:g.120535997C>G	NCBI36
NG_011633.1:g.62413C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.4690-57C>G (TECTA) MANE Select	ENSP00000376543.1:n.4690-57C>G
ENST00000642222.1:c.4690-57C>G (TECTA)	ENSP00000493855.1:n.4690-57C>G
ENST00000645008.1:c.1997-57C>G (TECTA)
ENST00000646278.1:n.626-57C>G (TECTA)
ENST00000264037.2:c.4690-57C>G (TECTA)	ENSP00000264037.2:n.4690-57C>G
ENST00000392793.5:c.4690-57C>G (TECTA)	ENSP00000376543.1:n.4690-57C>G
NM_005422.2:c.4690-57C>G (TECTA)	NP_005413.2:n.4690-57C>G
NM_001378761.1:c.5647-57C>G (TBCEL-TECTA)	NP_001365690.1:n.5647-57C>G
NM_005422.4:c.4690-57C>G (TECTA) MANE Select	NP_005413.2:n.4690-57C>G