Canonical Allele Identifier: CA204002

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041874C>T , CM000668.2:g.32041874C>T	GRCh38
NC_000006.11:g.32009651C>T , CM000668.1:g.32009651C>T	GRCh37
NC_000006.10:g.32117630C>T	NCBI36
NG_007941.2:g.8567C>T
NG_008337.2:g.72501G>A
NG_007941.3:g.8570C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.12530G>A MANE Select	NP_001352205.1:p.Ser4177Asn
ENST00000644971.2:c.12530G>A MANE Select	ENSP00000496448.1:p.Ser4177Asn
NM_001365276.1:c.12530G>A	NP_001352205.1:p.Ser4177Asn
NM_019105.6:c.12524G>A	NP_061978.6:p.Ser4175Asn
NM_019105.7:c.12524G>A	NP_061978.6:p.Ser4175Asn
NM_019105.8:c.12524G>A	NP_061978.6:p.Ser4175Asn
NM_032470.3:c.1817G>A	NP_115859.2:p.Ser606Asn
NM_032470.4:c.1817G>A	NP_115859.2:p.Ser606Asn
ENST00000375244.7:c.12530G>A	ENSP00000364393.3:p.Ser4177Asn
ENST00000451343.4:c.1817G>A	ENSP00000407685.1:p.Ser606Asn
ENST00000490077.5:n.2357G>A
ENST00000611016.2:c.5684G>A	ENSP00000483409.1:p.Ser1895Asn
ENST00000647633.1:c.13271G>A	ENSP00000497649.1:p.Ser4424Asn