Canonical Allele Identifier: CA3732817

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32042349C>A , CM000668.2:g.32042349C>A	GRCh38
NC_000006.11:g.32010126C>A , CM000668.1:g.32010126C>A	GRCh37
NC_000006.10:g.32118105C>A	NCBI36
NG_007941.2:g.9042C>A
NG_008337.2:g.72026G>T
NG_007941.3:g.9045C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.12224G>T MANE Select	NP_001352205.1:p.Arg4075Leu
ENST00000644971.2:c.12224G>T MANE Select	ENSP00000496448.1:p.Arg4075Leu
NM_001365276.1:c.12224G>T	NP_001352205.1:p.Arg4075Leu
NM_019105.6:c.12218G>T	NP_061978.6:p.Arg4073Leu
NM_019105.7:c.12218G>T	NP_061978.6:p.Arg4073Leu
NM_019105.8:c.12218G>T	NP_061978.6:p.Arg4073Leu
NM_032470.3:c.1511G>T	NP_115859.2:p.Arg504Leu
NM_032470.4:c.1511G>T	NP_115859.2:p.Arg504Leu
ENST00000375244.7:c.12224G>T	ENSP00000364393.3:p.Arg4075Leu
ENST00000451343.4:c.1511G>T	ENSP00000407685.1:p.Arg504Leu
ENST00000490077.5:n.2051G>T
ENST00000498094.1:n.709G>T
ENST00000611016.2:c.5378G>T	ENSP00000483409.1:p.Arg1793Leu
ENST00000647633.1:c.12965G>T	ENSP00000497649.1:p.Arg4322Leu