Canonical Allele Identifier: CA6326421
Community Standard Title: NM_005422.4(TECTA):c.90A>T (p.Pro30=)
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121105856A>T , CM000673.2:g.121105856A>T GRCh38
NC_000011.9:g.120976565A>T , CM000673.1:g.120976565A>T GRCh37
NC_000011.8:g.120481775A>T NCBI36
NG_011633.1:g.8191A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005422.4:c.90A>T (TECTA) MANE Select NP_005413.2:p.Pro30=
ENST00000392793.6:c.90A>T (TECTA) MANE Select ENSP00000376543.1:p.Pro30=
NM_001378761.1:c.1047A>T (TBCEL-TECTA) NP_001365690.1:p.Pro349=
NM_005422.2:c.90A>T (TECTA) NP_005413.2:p.Pro30=
ENST00000264037.2:c.90A>T (TECTA) ENSP00000264037.2:p.Pro30=
ENST00000392793.5:c.90A>T (TECTA) ENSP00000376543.1:p.Pro30=
ENST00000642222.1:c.90A>T (TECTA) ENSP00000493855.1:p.Pro30=
ENST00000644541.1:n.1231A>T (TBCEL-TECTA)
ENST00000645041.1:c.999A>T (TBCEL-TECTA) ENSP00000496315.1:p.Pro333=