Canonical Allele Identifier: CA1619400905
Community Standard Title: NM_001365276.2(TNXB):c.12356G= (p.Arg4119=)
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32042125C= , CM000668.2:g.32042125C= GRCh38
NC_000006.11:g.32009902C= , CM000668.1:g.32009902C= GRCh37
NC_000006.10:g.32117881C= NCBI36
NG_007941.2:g.8818C=
NG_008337.2:g.72250G=
NG_007941.3:g.8821C=

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.12356G= MANE Select NP_001352205.1:p.Arg4119=
ENST00000644971.2:c.12356G= MANE Select ENSP00000496448.1:p.Arg4119=
NM_001365276.1:c.12356G= NP_001352205.1:p.Arg4119=
NM_019105.6:c.12350G= NP_061978.6:p.Arg4117=
NM_019105.7:c.12350G= NP_061978.6:p.Arg4117=
NM_019105.8:c.12350G= NP_061978.6:p.Arg4117=
NM_032470.3:c.1643G= NP_115859.2:p.Arg548=
NM_032470.4:c.1643G= NP_115859.2:p.Arg548=
ENST00000375244.7:c.12356G= ENSP00000364393.3:p.Arg4119=
ENST00000451343.4:c.1643G= ENSP00000407685.1:p.Arg548=
ENST00000490077.5:n.2183G=
ENST00000611016.2:c.5510G= ENSP00000483409.1:p.Arg1837=
ENST00000647633.1:c.13097G= ENSP00000497649.1:p.Arg4366=