Canonical Allele Identifier: CA3733904

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32056045A>G , CM000668.2:g.32056045A>G	GRCh38
NC_000006.11:g.32023822A>G , CM000668.1:g.32023822A>G	GRCh37
NC_000006.10:g.32131800A>G	NCBI36
NG_008337.2:g.58330T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.8273T>C MANE Select	NP_001352205.1:p.Ile2758Thr
ENST00000644971.2:c.8273T>C MANE Select	ENSP00000496448.1:p.Ile2758Thr
NM_001365276.1:c.8273T>C	NP_001352205.1:p.Ile2758Thr
NM_019105.6:c.8273T>C	NP_061978.6:p.Ile2758Thr
NM_019105.7:c.8273T>C	NP_061978.6:p.Ile2758Thr
NM_019105.8:c.8273T>C	NP_061978.6:p.Ile2758Thr
ENST00000375244.7:c.8273T>C	ENSP00000364393.3:p.Ile2758Thr
ENST00000611016.2:c.1433T>C	ENSP00000483409.1:p.Ile478Thr
ENST00000647633.1:c.9014T>C	ENSP00000497649.1:p.Ile3005Thr