Canonical Allele Identifier: CA3733754
Community Standard Title: NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met)
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32053418C>T , CM000668.2:g.32053418C>T GRCh38
NC_000006.11:g.32021195C>T , CM000668.1:g.32021195C>T GRCh37
NC_000006.10:g.32129173C>T NCBI36
NG_008337.2:g.60957G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.8761G>A MANE Select NP_001352205.1:p.Val2921Met
ENST00000644971.2:c.8761G>A MANE Select ENSP00000496448.1:p.Val2921Met
NM_001365276.1:c.8761G>A NP_001352205.1:p.Val2921Met
NM_019105.6:c.8755G>A NP_061978.6:p.Val2919Met
NM_019105.7:c.8755G>A NP_061978.6:p.Val2919Met
NM_019105.8:c.8755G>A NP_061978.6:p.Val2919Met
ENST00000375244.7:c.8761G>A ENSP00000364393.3:p.Val2921Met
ENST00000611016.2:c.1915G>A ENSP00000483409.1:p.Val639Met
ENST00000647633.1:c.9502G>A ENSP00000497649.1:p.Val3168Met