Canonical Allele Identifier: CA383032019

Gene: TECTA TBCEL-TECTA

Linked Data

• MyVariant Identifiers: chr11:g.121032959T>C (hg19) ; chr11:g.121162250T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162250T>C , CM000673.2:g.121162250T>C	GRCh38
NC_000011.9:g.121032959T>C , CM000673.1:g.121032959T>C	GRCh37
NC_000011.8:g.120538169T>C	NCBI36
NG_011633.1:g.64585T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5152T>C (TECTA) MANE Select	ENSP00000376543.1:p.Tyr1718His
ENST00000642222.1:c.5137T>C (TECTA)	ENSP00000493855.1:p.Tyr1713His
ENST00000645008.1:c.2444T>C (TECTA)
ENST00000646278.1:n.1073T>C (TECTA)
ENST00000264037.2:c.5152T>C (TECTA)	ENSP00000264037.2:p.Tyr1718His
ENST00000392793.5:c.5152T>C (TECTA)	ENSP00000376543.1:p.Tyr1718His
NM_005422.2:c.5152T>C (TECTA)	NP_005413.2:p.Tyr1718His
NM_001378761.1:c.6094T>C (TBCEL-TECTA)	NP_001365690.1:p.Tyr2032His
NM_005422.4:c.5152T>C (TECTA) MANE Select	NP_005413.2:p.Tyr1718His