Canonical Allele Identifier: CA136889743

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32071744C>T , CM000668.2:g.32071744C>T	GRCh38
NC_000006.11:g.32039521C>T , CM000668.1:g.32039521C>T	GRCh37
NC_000006.10:g.32147499C>T	NCBI36
NG_008337.2:g.42631G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.4990+246G>A MANE Select	NP_001352205.1:n.4990+246G>A
ENST00000644971.2:c.4990+246G>A MANE Select	ENSP00000496448.1:n.4990+246G>A
NM_001365276.1:c.4990+246G>A	NP_001352205.1:n.4990+246G>A
NM_019105.6:c.4990+246G>A	NP_061978.6:n.4990+246G>A
NM_019105.7:c.4990+246G>A	NP_061978.6:n.4990+246G>A
NM_019105.8:c.4990+246G>A	NP_061978.6:n.4990+246G>A
ENST00000375244.7:c.4990+246G>A	ENSP00000364393.3:n.4990+246G>A
ENST00000613214.4:c.5251+246G>A	ENSP00000480067.1:n.5251+246G>A
ENST00000647633.1:c.5731+246G>A	ENSP00000497649.1:n.5731+246G>A