Canonical Allele Identifier: CA383018460
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs1591449096

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121137489A>G , CM000673.2:g.121137489A>G GRCh38
NC_000011.9:g.121008198A>G , CM000673.1:g.121008198A>G GRCh37
NC_000011.8:g.120513408A>G NCBI36
NG_011633.1:g.39824A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3010A>G (TECTA) MANE Select ENSP00000376543.1:p.Thr1004Ala
ENST00000642222.1:c.3010A>G (TECTA) ENSP00000493855.1:p.Thr1004Ala
ENST00000645008.1:c.317A>G (TECTA)
ENST00000264037.2:c.3010A>G (TECTA) ENSP00000264037.2:p.Thr1004Ala
ENST00000392793.5:c.3010A>G (TECTA) ENSP00000376543.1:p.Thr1004Ala
NM_005422.2:c.3010A>G (TECTA) NP_005413.2:p.Thr1004Ala
NM_001378761.1:c.3967A>G (TBCEL-TECTA) NP_001365690.1:p.Thr1323Ala
NM_005422.4:c.3010A>G (TECTA) MANE Select NP_005413.2:p.Thr1004Ala