Canonical Allele Identifier: CA383019159
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs2135096073

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121137670G>A , CM000673.2:g.121137670G>A GRCh38
NC_000011.9:g.121008379G>A , CM000673.1:g.121008379G>A GRCh37
NC_000011.8:g.120513589G>A NCBI36
NG_011633.1:g.40005G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3191G>A (TECTA) MANE Select ENSP00000376543.1:p.Ser1064Asn
ENST00000642222.1:c.3191G>A (TECTA) ENSP00000493855.1:p.Ser1064Asn
ENST00000645008.1:c.498G>A (TECTA)
ENST00000264037.2:c.3191G>A (TECTA) ENSP00000264037.2:p.Ser1064Asn
ENST00000392793.5:c.3191G>A (TECTA) ENSP00000376543.1:p.Ser1064Asn
NM_005422.2:c.3191G>A (TECTA) NP_005413.2:p.Ser1064Asn
NM_001378761.1:c.4148G>A (TBCEL-TECTA) NP_001365690.1:p.Ser1383Asn
NM_005422.4:c.3191G>A (TECTA) MANE Select NP_005413.2:p.Ser1064Asn