Canonical Allele Identifier: CA363514041

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041859C>G , CM000668.2:g.32041859C>G	GRCh38
NC_000006.11:g.32009636C>G , CM000668.1:g.32009636C>G	GRCh37
NC_000006.10:g.32117615C>G	NCBI36
NG_007941.2:g.8552C>G
NG_008337.2:g.72516G>C
NG_007941.3:g.8555C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.12545G>C MANE Select	NP_001352205.1:p.Cys4182Ser
ENST00000644971.2:c.12545G>C MANE Select	ENSP00000496448.1:p.Cys4182Ser
NM_001365276.1:c.12545G>C	NP_001352205.1:p.Cys4182Ser
NM_019105.6:c.12539G>C	NP_061978.6:p.Cys4180Ser
NM_019105.7:c.12539G>C	NP_061978.6:p.Cys4180Ser
NM_019105.8:c.12539G>C	NP_061978.6:p.Cys4180Ser
NM_032470.3:c.1832G>C	NP_115859.2:p.Cys611Ser
NM_032470.4:c.1832G>C	NP_115859.2:p.Cys611Ser
ENST00000375244.7:c.12545G>C	ENSP00000364393.3:p.Cys4182Ser
ENST00000451343.4:c.1832G>C	ENSP00000407685.1:p.Cys611Ser
ENST00000490077.5:n.2372G>C
ENST00000611016.2:c.5699G>C	ENSP00000483409.1:p.Cys1900Ser
ENST00000647633.1:c.13286G>C	ENSP00000497649.1:p.Cys4429Ser