Canonical Allele Identifier: CA363529315

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32046412C>G , CM000668.2:g.32046412C>G	GRCh38
NC_000006.11:g.32014189C>G , CM000668.1:g.32014189C>G	GRCh37
NC_000006.10:g.32122167C>G	NCBI36
NG_008337.2:g.67963G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.10369G>C MANE Select	NP_001352205.1:p.Val3457Leu
ENST00000644971.2:c.10369G>C MANE Select	ENSP00000496448.1:p.Val3457Leu
NM_001365276.1:c.10369G>C	NP_001352205.1:p.Val3457Leu
NM_019105.6:c.10363G>C	NP_061978.6:p.Val3455Leu
NM_019105.7:c.10363G>C	NP_061978.6:p.Val3455Leu
NM_019105.8:c.10363G>C	NP_061978.6:p.Val3455Leu
ENST00000375244.7:c.10369G>C	ENSP00000364393.3:p.Val3457Leu
ENST00000490077.5:n.196G>C
ENST00000611016.2:c.3523G>C	ENSP00000483409.1:p.Val1175Leu
ENST00000647633.1:c.11110G>C	ENSP00000497649.1:p.Val3704Leu