Canonical Allele Identifier: CA2581564499
Community Standard Title: NM_001365276.2(TNXB):c.-9+459C>G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32108722G>C , CM000668.2:g.32108722G>C GRCh38
NC_000006.11:g.32076499G>C , CM000668.1:g.32076499G>C GRCh37
NC_000006.10:g.32184477G>C NCBI36
NG_008337.2:g.5653C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.-9+459C>G (TNXB) MANE Select NP_001352205.1:n.-9+459C>G
ENST00000644971.2:c.-9+459C>G (TNXB) MANE Select ENSP00000496448.1:n.-9+459C>G
NM_001365276.1:c.-9+459C>G (TNXB) NP_001352205.1:n.-9+459C>G
NM_019105.6:c.-9+459C>G (TNXB) NP_061978.6:n.-9+459C>G
NM_019105.7:c.-9+459C>G (TNXB) NP_061978.6:n.-9+459C>G
NM_019105.8:c.-9+459C>G (TNXB) NP_061978.6:n.-9+459C>G
ENST00000375244.7:c.-9+459C>G (TNXB) ENSP00000364393.3:n.-9+459C>G
ENST00000442721.1:c.-9+6272C>G (TNXB) ENSP00000389946.1:n.-9+6272C>G
ENST00000479795.1:c.-9+459C>G (TNXB) ENSP00000418248.1:n.-9+459C>G
ENST00000486148.1:n.41+459C>G (TNXB)
ENST00000494022.1:n.289+7982C>G (ATF6B)
ENST00000647633.1:c.-9+459C>G (TNXB) ENSP00000497649.1:n.-9+459C>G