Canonical Allele Identifier: CA383031443
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs1404371792

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162126G>T , CM000673.2:g.121162126G>T GRCh38
NC_000011.9:g.121032835G>T , CM000673.1:g.121032835G>T GRCh37
NC_000011.8:g.120538045G>T NCBI36
NG_011633.1:g.64461G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5028G>T (TECTA) MANE Select ENSP00000376543.1:p.Met1676Ile
ENST00000642222.1:c.5013G>T (TECTA) ENSP00000493855.1:p.Met1671Ile
ENST00000645008.1:c.2320G>T (TECTA)
ENST00000646278.1:n.949G>T (TECTA)
ENST00000264037.2:c.5028G>T (TECTA) ENSP00000264037.2:p.Met1676Ile
ENST00000392793.5:c.5028G>T (TECTA) ENSP00000376543.1:p.Met1676Ile
NM_005422.2:c.5028G>T (TECTA) NP_005413.2:p.Met1676Ile
NM_001378761.1:c.5970G>T (TBCEL-TECTA) NP_001365690.1:p.Met1990Ile
NM_005422.4:c.5028G>T (TECTA) MANE Select NP_005413.2:p.Met1676Ile