Canonical Allele Identifier: CA363520321
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32042574C>G , CM000668.2:g.32042574C>G GRCh38
NC_000006.11:g.32010351C>G , CM000668.1:g.32010351C>G GRCh37
NC_000006.10:g.32118330C>G NCBI36
NG_007941.2:g.9267C>G
NG_008337.2:g.71801G>C
NG_007941.3:g.9270C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644971.2:c.12091G>C MANE Select ENSP00000496448.1:p.Gly4031Arg
ENST00000647633.1:c.12832G>C ENSP00000497649.1:p.Gly4278Arg
ENST00000375244.7:c.12091G>C ENSP00000364393.3:p.Gly4031Arg
ENST00000451343.4:c.1378G>C ENSP00000407685.1:p.Gly460Arg
ENST00000490077.5:n.1918G>C
ENST00000498094.1:n.576G>C
ENST00000611016.2:c.5245G>C ENSP00000483409.1:p.Gly1749Arg
NM_019105.6:c.12085G>C NP_061978.6:p.Gly4029Arg
NM_032470.3:c.1378G>C NP_115859.2:p.Gly460Arg
NM_001365276.1:c.12091G>C NP_001352205.1:p.Gly4031Arg
NM_019105.7:c.12085G>C NP_061978.6:p.Gly4029Arg
NM_001365276.2:c.12091G>C MANE Select NP_001352205.1:p.Gly4031Arg
NM_019105.8:c.12085G>C NP_061978.6:p.Gly4029Arg
NM_032470.4:c.1378G>C NP_115859.2:p.Gly460Arg