Canonical Allele Identifier: CA3734860
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32072086T>C , CM000668.2:g.32072086T>C GRCh38
NC_000006.11:g.32039863T>C , CM000668.1:g.32039863T>C GRCh37
NC_000006.10:g.32147841T>C NCBI36
NG_008337.2:g.42289A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.4894A>G MANE Select NP_001352205.1:p.Ile1632Val
ENST00000644971.2:c.4894A>G MANE Select ENSP00000496448.1:p.Ile1632Val
NM_001365276.1:c.4894A>G NP_001352205.1:p.Ile1632Val
NM_019105.6:c.4894A>G NP_061978.6:p.Ile1632Val
NM_019105.7:c.4894A>G NP_061978.6:p.Ile1632Val
NM_019105.8:c.4894A>G NP_061978.6:p.Ile1632Val
ENST00000375244.7:c.4894A>G ENSP00000364393.3:p.Ile1632Val
ENST00000613214.4:c.5155A>G ENSP00000480067.1:n.5155A>G
ENST00000647633.1:c.5635A>G ENSP00000497649.1:p.Ile1879Val