Canonical Allele Identifier: CA136898283

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32084521G>A , CM000668.2:g.32084521G>A	GRCh38
NC_000006.11:g.32052298G>A , CM000668.1:g.32052298G>A	GRCh37
NC_000006.10:g.32160276G>A	NCBI36
NG_008337.2:g.29854C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.3337C>T MANE Select	NP_001352205.1:p.Arg1113Cys
ENST00000644971.2:c.3337C>T MANE Select	ENSP00000496448.1:p.Arg1113Cys
NM_001365276.1:c.3337C>T	NP_001352205.1:p.Arg1113Cys
NM_019105.6:c.3337C>T	NP_061978.6:p.Arg1113Cys
NM_019105.7:c.3337C>T	NP_061978.6:p.Arg1113Cys
NM_019105.8:c.3337C>T	NP_061978.6:p.Arg1113Cys
ENST00000375244.7:c.3337C>T	ENSP00000364393.3:p.Arg1113Cys
ENST00000613214.4:c.3598C>T	ENSP00000480067.1:p.Arg1200Cys
ENST00000647633.1:c.4078C>T	ENSP00000497649.1:p.Arg1360Cys