Canonical Allele Identifier: CA363531082
Community Standard Title: NM_001365276.2(TNXB):c.10300C>T (p.Pro3434Ser)
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32047758G>A , CM000668.2:g.32047758G>A GRCh38
NC_000006.11:g.32015535G>A , CM000668.1:g.32015535G>A GRCh37
NC_000006.10:g.32123513G>A NCBI36
NG_008337.2:g.66617C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.10300C>T MANE Select NP_001352205.1:p.Pro3434Ser
ENST00000644971.2:c.10300C>T MANE Select ENSP00000496448.1:p.Pro3434Ser
NM_001365276.1:c.10300C>T NP_001352205.1:p.Pro3434Ser
NM_019105.6:c.10294C>T NP_061978.6:p.Pro3432Ser
NM_019105.7:c.10294C>T NP_061978.6:p.Pro3432Ser
NM_019105.8:c.10294C>T NP_061978.6:p.Pro3432Ser
ENST00000375244.7:c.10300C>T ENSP00000364393.3:p.Pro3434Ser
ENST00000611016.2:c.3454C>T ENSP00000483409.1:p.Pro1152Ser
ENST00000647633.1:c.11041C>T ENSP00000497649.1:p.Pro3681Ser