Canonical Allele Identifier: CA363514062

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041860A>T , CM000668.2:g.32041860A>T	GRCh38
NC_000006.11:g.32009637A>T , CM000668.1:g.32009637A>T	GRCh37
NC_000006.10:g.32117616A>T	NCBI36
NG_007941.2:g.8553A>T
NG_008337.2:g.72515T>A
NG_007941.3:g.8556A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.12544T>A MANE Select	NP_001352205.1:p.Cys4182Ser
ENST00000644971.2:c.12544T>A MANE Select	ENSP00000496448.1:p.Cys4182Ser
NM_001365276.1:c.12544T>A	NP_001352205.1:p.Cys4182Ser
NM_019105.6:c.12538T>A	NP_061978.6:p.Cys4180Ser
NM_019105.7:c.12538T>A	NP_061978.6:p.Cys4180Ser
NM_019105.8:c.12538T>A	NP_061978.6:p.Cys4180Ser
NM_032470.3:c.1831T>A	NP_115859.2:p.Cys611Ser
NM_032470.4:c.1831T>A	NP_115859.2:p.Cys611Ser
ENST00000375244.7:c.12544T>A	ENSP00000364393.3:p.Cys4182Ser
ENST00000451343.4:c.1831T>A	ENSP00000407685.1:p.Cys611Ser
ENST00000490077.5:n.2371T>A
ENST00000611016.2:c.5698T>A	ENSP00000483409.1:p.Cys1900Ser
ENST00000647633.1:c.13285T>A	ENSP00000497649.1:p.Cys4429Ser