Canonical Allele Identifier: CA3732866
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32042509G>C , CM000668.2:g.32042509G>C GRCh38
NC_000006.11:g.32010286G>C , CM000668.1:g.32010286G>C GRCh37
NC_000006.10:g.32118265G>C NCBI36
NG_007941.2:g.9202G>C
NG_008337.2:g.71866C>G
NG_007941.3:g.9205G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.12156C>G MANE Select NP_001352205.1:p.Arg4052=
ENST00000644971.2:c.12156C>G MANE Select ENSP00000496448.1:p.Arg4052=
NM_001365276.1:c.12156C>G NP_001352205.1:p.Arg4052=
NM_019105.6:c.12150C>G NP_061978.6:p.Arg4050=
NM_019105.7:c.12150C>G NP_061978.6:p.Arg4050=
NM_019105.8:c.12150C>G NP_061978.6:p.Arg4050=
NM_032470.3:c.1443C>G NP_115859.2:p.Arg481=
NM_032470.4:c.1443C>G NP_115859.2:p.Arg481=
ENST00000375244.7:c.12156C>G ENSP00000364393.3:p.Arg4052=
ENST00000451343.4:c.1443C>G ENSP00000407685.1:p.Arg481=
ENST00000490077.5:n.1983C>G
ENST00000498094.1:n.641C>G
ENST00000611016.2:c.5310C>G ENSP00000483409.1:p.Arg1770=
ENST00000647633.1:c.12897C>G ENSP00000497649.1:p.Arg4299=