Canonical Allele Identifier: CA363553688

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32062199C>A , CM000668.2:g.32062199C>A	GRCh38
NC_000006.11:g.32029976C>A , CM000668.1:g.32029976C>A	GRCh37
NC_000006.10:g.32137954C>A	NCBI36
NG_008337.2:g.52176G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.7126G>T MANE Select	NP_001352205.1:p.Gly2376Cys
ENST00000644971.2:c.7126G>T MANE Select	ENSP00000496448.1:p.Gly2376Cys
NM_001365276.1:c.7126G>T	NP_001352205.1:p.Gly2376Cys
NM_019105.6:c.7126G>T	NP_061978.6:p.Gly2376Cys
NM_019105.7:c.7126G>T	NP_061978.6:p.Gly2376Cys
NM_019105.8:c.7126G>T	NP_061978.6:p.Gly2376Cys
ENST00000375244.7:c.7126G>T	ENSP00000364393.3:p.Gly2376Cys
ENST00000611016.2:c.286G>T	ENSP00000483409.1:p.Gly96Cys
ENST00000647633.1:c.7867G>T	ENSP00000497649.1:p.Gly2623Cys