Canonical Allele Identifier: CA229825130

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1023737299
• gnomAD v2: 11-121008052-C-G
• gnomAD v3: 11-121137343-C-G
• gnomAD v4: 11-121137343-C-G
• MyVariant Identifiers: chr11:g.121008052C>G (hg19) ; chr11:g.121137343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121137343C>G , CM000673.2:g.121137343C>G	GRCh38
NC_000011.9:g.121008052C>G , CM000673.1:g.121008052C>G	GRCh37
NC_000011.8:g.120513262C>G	NCBI36
NG_011633.1:g.39678C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.2942-78C>G (TECTA) MANE Select	ENSP00000376543.1:n.2942-78C>G
ENST00000642222.1:c.2942-78C>G (TECTA)	ENSP00000493855.1:n.2942-78C>G
ENST00000645008.1:c.249-78C>G (TECTA)
ENST00000264037.2:c.2942-78C>G (TECTA)	ENSP00000264037.2:n.2942-78C>G
ENST00000392793.5:c.2942-78C>G (TECTA)	ENSP00000376543.1:n.2942-78C>G
NM_005422.2:c.2942-78C>G (TECTA)	NP_005413.2:n.2942-78C>G
NM_001378761.1:c.3899-78C>G (TBCEL-TECTA)	NP_001365690.1:n.3899-78C>G
NM_005422.4:c.2942-78C>G (TECTA) MANE Select	NP_005413.2:n.2942-78C>G