Canonical Allele Identifier: CA383022358
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs759739644

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145789G>C , CM000673.2:g.121145789G>C GRCh38
NC_000011.9:g.121016498G>C , CM000673.1:g.121016498G>C GRCh37
NC_000011.8:g.120521708G>C NCBI36
NG_011633.1:g.48124G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3778G>C (TECTA) MANE Select ENSP00000376543.1:p.Ala1260Pro
ENST00000642222.1:c.3778G>C (TECTA) ENSP00000493855.1:p.Ala1260Pro
ENST00000645008.1:c.1085G>C (TECTA)
ENST00000264037.2:c.3778G>C (TECTA) ENSP00000264037.2:p.Ala1260Pro
ENST00000392793.5:c.3778G>C (TECTA) ENSP00000376543.1:p.Ala1260Pro
ENST00000478058.1:n.343G>C (TECTA)
NM_005422.2:c.3778G>C (TECTA) NP_005413.2:p.Ala1260Pro
NM_001378761.1:c.4735G>C (TBCEL-TECTA) NP_001365690.1:p.Ala1579Pro
NM_005422.4:c.3778G>C (TECTA) MANE Select NP_005413.2:p.Ala1260Pro