Canonical Allele Identifier: CA363492303
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32097964G>T , CM000668.2:g.32097964G>T GRCh38
NC_000006.11:g.32065741G>T , CM000668.1:g.32065741G>T GRCh37
NC_000006.10:g.32173719G>T NCBI36
NG_008337.2:g.16411C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.235C>A MANE Select NP_001352205.1:p.Leu79Met
ENST00000644971.2:c.235C>A MANE Select ENSP00000496448.1:p.Leu79Met
NM_001365276.1:c.235C>A NP_001352205.1:p.Leu79Met
NM_019105.6:c.235C>A NP_061978.6:p.Leu79Met
NM_019105.7:c.235C>A NP_061978.6:p.Leu79Met
NM_019105.8:c.235C>A NP_061978.6:p.Leu79Met
ENST00000375244.7:c.235C>A ENSP00000364393.3:p.Leu79Met
ENST00000479795.1:c.235C>A ENSP00000418248.1:p.Leu79Met
ENST00000486148.1:n.284C>A
ENST00000613214.4:c.235C>A ENSP00000480067.1:p.Leu79Met
ENST00000647633.1:c.235C>A ENSP00000497649.1:p.Leu79Met