Canonical Allele Identifier: CA3733655
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32052702C>T , CM000668.2:g.32052702C>T GRCh38
NC_000006.11:g.32020479C>T , CM000668.1:g.32020479C>T GRCh37
NC_000006.10:g.32128457C>T NCBI36
NG_008337.2:g.61673G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.9083G>A MANE Select NP_001352205.1:p.Arg3028His
ENST00000644971.2:c.9083G>A MANE Select ENSP00000496448.1:p.Arg3028His
NM_001365276.1:c.9083G>A NP_001352205.1:p.Arg3028His
NM_019105.6:c.9077G>A NP_061978.6:p.Arg3026His
NM_019105.7:c.9077G>A NP_061978.6:p.Arg3026His
NM_019105.8:c.9077G>A NP_061978.6:p.Arg3026His
ENST00000375244.7:c.9083G>A ENSP00000364393.3:p.Arg3028His
ENST00000611016.2:c.2237G>A ENSP00000483409.1:p.Arg746His
ENST00000647633.1:c.9824G>A ENSP00000497649.1:p.Arg3275His