Canonical Allele Identifier: CA363545016
Community Standard Title: NM_001365276.2(TNXB):c.9044A>G (p.Lys3015Arg)
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32052741T>C , CM000668.2:g.32052741T>C GRCh38
NC_000006.11:g.32020518T>C , CM000668.1:g.32020518T>C GRCh37
NC_000006.10:g.32128496T>C NCBI36
NG_008337.2:g.61634A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.9044A>G MANE Select NP_001352205.1:p.Lys3015Arg
ENST00000644971.2:c.9044A>G MANE Select ENSP00000496448.1:p.Lys3015Arg
NM_001365276.1:c.9044A>G NP_001352205.1:p.Lys3015Arg
NM_019105.6:c.9038A>G NP_061978.6:p.Lys3013Arg
NM_019105.7:c.9038A>G NP_061978.6:p.Lys3013Arg
NM_019105.8:c.9038A>G NP_061978.6:p.Lys3013Arg
ENST00000375244.7:c.9044A>G ENSP00000364393.3:p.Lys3015Arg
ENST00000611016.2:c.2198A>G ENSP00000483409.1:p.Lys733Arg
ENST00000647633.1:c.9785A>G ENSP00000497649.1:p.Lys3262Arg