Canonical Allele Identifier: CA3732798

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32042129T>A , CM000668.2:g.32042129T>A	GRCh38
NC_000006.11:g.32009906T>A , CM000668.1:g.32009906T>A	GRCh37
NC_000006.10:g.32117885T>A	NCBI36
NG_007941.2:g.8822T>A
NG_008337.2:g.72246A>T
NG_007941.3:g.8825T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.12352A>T MANE Select	NP_001352205.1:p.Met4118Leu
ENST00000644971.2:c.12352A>T MANE Select	ENSP00000496448.1:p.Met4118Leu
NM_001365276.1:c.12352A>T	NP_001352205.1:p.Met4118Leu
NM_019105.6:c.12346A>T	NP_061978.6:p.Met4116Leu
NM_019105.7:c.12346A>T	NP_061978.6:p.Met4116Leu
NM_019105.8:c.12346A>T	NP_061978.6:p.Met4116Leu
NM_032470.3:c.1639A>T	NP_115859.2:p.Met547Leu
NM_032470.4:c.1639A>T	NP_115859.2:p.Met547Leu
ENST00000375244.7:c.12352A>T	ENSP00000364393.3:p.Met4118Leu
ENST00000451343.4:c.1639A>T	ENSP00000407685.1:p.Met547Leu
ENST00000490077.5:n.2179A>T
ENST00000611016.2:c.5506A>T	ENSP00000483409.1:p.Met1836Leu
ENST00000647633.1:c.13093A>T	ENSP00000497649.1:p.Met4365Leu