Canonical Allele Identifier: CA136895846
Gene: TNXB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32042125C>T , CM000668.2:g.32042125C>T GRCh38
NC_000006.11:g.32009902C>T , CM000668.1:g.32009902C>T GRCh37
NC_000006.10:g.32117881C>T NCBI36
NG_007941.2:g.8818C>T
NG_008337.2:g.72250G>A
NG_007941.3:g.8821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644971.2:c.12356G>A MANE Select ENSP00000496448.1:p.Arg4119His
ENST00000647633.1:c.13097G>A ENSP00000497649.1:p.Arg4366His
ENST00000375244.7:c.12356G>A ENSP00000364393.3:p.Arg4119His
ENST00000451343.4:c.1643G>A ENSP00000407685.1:p.Arg548His
ENST00000490077.5:n.2183G>A
ENST00000611016.2:c.5510G>A ENSP00000483409.1:p.Arg1837His
NM_019105.6:c.12350G>A NP_061978.6:p.Arg4117His
NM_032470.3:c.1643G>A NP_115859.2:p.Arg548His
NM_001365276.1:c.12356G>A NP_001352205.1:p.Arg4119His
NM_019105.7:c.12350G>A NP_061978.6:p.Arg4117His
NM_001365276.2:c.12356G>A MANE Select NP_001352205.1:p.Arg4119His
NM_019105.8:c.12350G>A NP_061978.6:p.Arg4117His
NM_032470.4:c.1643G>A NP_115859.2:p.Arg548His
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