Canonical Allele Identifier: CA383032272

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs549133840
• gnomAD v3: 11-121162323-G-C
• gnomAD v4: 11-121162323-G-C
• MyVariant Identifiers: chr11:g.121033032G>C (hg19) ; chr11:g.121162323G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162323G>C , CM000673.2:g.121162323G>C	GRCh38
NC_000011.9:g.121033032G>C , CM000673.1:g.121033032G>C	GRCh37
NC_000011.8:g.120538242G>C	NCBI36
NG_011633.1:g.64658G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5225G>C (TECTA) MANE Select	ENSP00000376543.1:p.Arg1742Pro
ENST00000642222.1:c.5210G>C (TECTA)	ENSP00000493855.1:p.Arg1737Pro
ENST00000645008.1:c.2517G>C (TECTA)
ENST00000646278.1:n.1146G>C (TECTA)
ENST00000264037.2:c.5225G>C (TECTA)	ENSP00000264037.2:p.Arg1742Pro
ENST00000392793.5:c.5225G>C (TECTA)	ENSP00000376543.1:p.Arg1742Pro
NM_005422.2:c.5225G>C (TECTA)	NP_005413.2:p.Arg1742Pro
NM_001378761.1:c.6167G>C (TBCEL-TECTA)	NP_001365690.1:p.Arg2056Pro
NM_005422.4:c.5225G>C (TECTA) MANE Select	NP_005413.2:p.Arg1742Pro