Canonical Allele Identifier: CA363482078

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32096484T>G , CM000668.2:g.32096484T>G	GRCh38
NC_000006.11:g.32064261T>G , CM000668.1:g.32064261T>G	GRCh37
NC_000006.10:g.32172239T>G	NCBI36
NG_008337.2:g.17891A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.1369A>C MANE Select	NP_001352205.1:p.Ser457Arg
ENST00000644971.2:c.1369A>C MANE Select	ENSP00000496448.1:p.Ser457Arg
NM_001365276.1:c.1369A>C	NP_001352205.1:p.Ser457Arg
NM_019105.6:c.1369A>C	NP_061978.6:p.Ser457Arg
NM_019105.7:c.1369A>C	NP_061978.6:p.Ser457Arg
NM_019105.8:c.1369A>C	NP_061978.6:p.Ser457Arg
ENST00000375244.7:c.1369A>C	ENSP00000364393.3:p.Ser457Arg
ENST00000479795.1:c.1369A>C	ENSP00000418248.1:p.Ser457Arg
ENST00000486148.1:n.1764A>C
ENST00000613214.4:c.1369A>C	ENSP00000480067.1:p.Ser457Arg
ENST00000647633.1:c.1369A>C	ENSP00000497649.1:p.Ser457Arg