Canonical Allele Identifier: CA3734138

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32061403C>T , CM000668.2:g.32061403C>T	GRCh38
NC_000006.11:g.32029180C>T , CM000668.1:g.32029180C>T	GRCh37
NC_000006.10:g.32137158C>T	NCBI36
NG_008337.2:g.52972G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.7486G>A MANE Select	NP_001352205.1:p.Val2496Met
ENST00000644971.2:c.7486G>A MANE Select	ENSP00000496448.1:p.Val2496Met
NM_001365276.1:c.7486G>A	NP_001352205.1:p.Val2496Met
NM_019105.6:c.7486G>A	NP_061978.6:p.Val2496Met
NM_019105.7:c.7486G>A	NP_061978.6:p.Val2496Met
NM_019105.8:c.7486G>A	NP_061978.6:p.Val2496Met
ENST00000375244.7:c.7486G>A	ENSP00000364393.3:p.Val2496Met
ENST00000611016.2:c.646G>A	ENSP00000483409.1:p.Val216Met
ENST00000647633.1:c.8227G>A	ENSP00000497649.1:p.Val2743Met