Canonical Allele Identifier: CA3732937

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32043539G>T , CM000668.2:g.32043539G>T	GRCh38
NC_000006.11:g.32011316G>T , CM000668.1:g.32011316G>T	GRCh37
NC_000006.10:g.32119295G>T	NCBI36
NG_007941.2:g.10232G>T
NG_008337.2:g.70836C>A
NG_007941.3:g.10235G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.11548C>A MANE Select	NP_001352205.1:p.Gln3850Lys
ENST00000644971.2:c.11548C>A MANE Select	ENSP00000496448.1:p.Gln3850Lys
NM_001365276.1:c.11548C>A	NP_001352205.1:p.Gln3850Lys
NM_019105.6:c.11542C>A	NP_061978.6:p.Gln3848Lys
NM_019105.7:c.11542C>A	NP_061978.6:p.Gln3848Lys
NM_019105.8:c.11542C>A	NP_061978.6:p.Gln3848Lys
NM_032470.3:c.835C>A	NP_115859.2:p.Gln279Lys
NM_032470.4:c.835C>A	NP_115859.2:p.Gln279Lys
ENST00000375244.7:c.11548C>A	ENSP00000364393.3:p.Gln3850Lys
ENST00000451343.4:c.835C>A	ENSP00000407685.1:p.Gln279Lys
ENST00000490077.5:n.1375C>A
ENST00000611016.2:c.4702C>A	ENSP00000483409.1:p.Gln1568Lys
ENST00000647633.1:c.12289C>A	ENSP00000497649.1:p.Gln4097Lys