Canonical Allele Identifier: CA3732844
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32042450C>T , CM000668.2:g.32042450C>T GRCh38
NC_000006.11:g.32010227C>T , CM000668.1:g.32010227C>T GRCh37
NC_000006.10:g.32118206C>T NCBI36
NG_007941.2:g.9143C>T
NG_008337.2:g.71925G>A
NG_007941.3:g.9146C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644971.2:c.12210+5G>A MANE Select ENSP00000496448.1:n.12210+5G>A
ENST00000647633.1:c.12951+5G>A ENSP00000497649.1:n.12951+5G>A
ENST00000375244.7:c.12210+5G>A ENSP00000364393.3:n.12210+5G>A
ENST00000451343.4:c.1497+5G>A ENSP00000407685.1:n.1497+5G>A
ENST00000490077.5:n.2037+5G>A
ENST00000498094.1:n.695+5G>A
ENST00000611016.2:c.5364+5G>A ENSP00000483409.1:n.5364+5G>A
NM_019105.6:c.12204+5G>A NP_061978.6:n.12204+5G>A
NM_032470.3:c.1497+5G>A NP_115859.2:n.1497+5G>A
NM_001365276.1:c.12210+5G>A NP_001352205.1:n.12210+5G>A
NM_019105.7:c.12204+5G>A NP_061978.6:n.12204+5G>A
NM_001365276.2:c.12210+5G>A MANE Select NP_001352205.1:n.12210+5G>A
NM_019105.8:c.12204+5G>A NP_061978.6:n.12204+5G>A
NM_032470.4:c.1497+5G>A NP_115859.2:n.1497+5G>A