Canonical Allele Identifier: CA2578574611

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32044948G>A , CM000668.2:g.32044948G>A	GRCh38
NC_000006.11:g.32012725G>A , CM000668.1:g.32012725G>A	GRCh37
NC_000006.10:g.32120703G>A	NCBI36
NG_008337.2:g.69427C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.10927+58C>T MANE Select	NP_001352205.1:n.10927+58C>T
ENST00000644971.2:c.10927+58C>T MANE Select	ENSP00000496448.1:n.10927+58C>T
NM_001365276.1:c.10927+58C>T	NP_001352205.1:n.10927+58C>T
NM_019105.6:c.10921+58C>T	NP_061978.6:n.10921+58C>T
NM_019105.7:c.10921+58C>T	NP_061978.6:n.10921+58C>T
NM_019105.8:c.10921+58C>T	NP_061978.6:n.10921+58C>T
NM_032470.3:c.214+58C>T	NP_115859.2:n.214+58C>T
NM_032470.4:c.214+58C>T	NP_115859.2:n.214+58C>T
ENST00000375244.7:c.10927+58C>T	ENSP00000364393.3:n.10927+58C>T
ENST00000451343.4:c.214+58C>T	ENSP00000407685.1:n.214+58C>T
ENST00000490077.5:n.754+58C>T
ENST00000611016.2:c.4081+58C>T	ENSP00000483409.1:n.4081+58C>T
ENST00000647633.1:c.11668+58C>T	ENSP00000497649.1:n.11668+58C>T