Canonical Allele Identifier: CA136890169
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32072602C>T , CM000668.2:g.32072602C>T GRCh38
NC_000006.11:g.32040379C>T , CM000668.1:g.32040379C>T GRCh37
NC_000006.10:g.32148357C>T NCBI36
NG_008337.2:g.41773G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.4682-304G>A MANE Select NP_001352205.1:n.4682-304G>A
ENST00000644971.2:c.4682-304G>A MANE Select ENSP00000496448.1:n.4682-304G>A
NM_001365276.1:c.4682-304G>A NP_001352205.1:n.4682-304G>A
NM_019105.6:c.4682-304G>A NP_061978.6:n.4682-304G>A
NM_019105.7:c.4682-304G>A NP_061978.6:n.4682-304G>A
NM_019105.8:c.4682-304G>A NP_061978.6:n.4682-304G>A
ENST00000375244.7:c.4682-304G>A ENSP00000364393.3:n.4682-304G>A
ENST00000613214.4:c.4943-304G>A ENSP00000480067.1:n.4943-304G>A
ENST00000647633.1:c.5423-304G>A ENSP00000497649.1:n.5423-304G>A