Canonical Allele Identifier: CA3733196

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32046208G>A , CM000668.2:g.32046208G>A	GRCh38
NC_000006.11:g.32013985G>A , CM000668.1:g.32013985G>A	GRCh37
NC_000006.10:g.32121963G>A	NCBI36
NG_008337.2:g.68167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644971.2:c.10573C>T MANE Select	ENSP00000496448.1:p.Arg3525Cys
ENST00000647633.1:c.11314C>T	ENSP00000497649.1:p.Arg3772Cys
ENST00000375244.7:c.10573C>T	ENSP00000364393.3:p.Arg3525Cys
ENST00000490077.5:n.400C>T
ENST00000611016.2:c.3727C>T	ENSP00000483409.1:p.Arg1243Cys
NM_019105.6:c.10567C>T	NP_061978.6:p.Arg3523Cys
NM_001365276.1:c.10573C>T	NP_001352205.1:p.Arg3525Cys
NM_019105.7:c.10567C>T	NP_061978.6:p.Arg3523Cys
NM_001365276.2:c.10573C>T MANE Select	NP_001352205.1:p.Arg3525Cys
NM_019105.8:c.10567C>T	NP_061978.6:p.Arg3523Cys