Canonical Allele Identifier: CA3734999

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32079167C>T , CM000668.2:g.32079167C>T	GRCh38
NC_000006.11:g.32046944C>T , CM000668.1:g.32046944C>T	GRCh37
NC_000006.10:g.32154922C>T	NCBI36
NG_008337.2:g.35208G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.4241G>A MANE Select	NP_001352205.1:p.Arg1414Gln
ENST00000644971.2:c.4241G>A MANE Select	ENSP00000496448.1:p.Arg1414Gln
NM_001365276.1:c.4241G>A	NP_001352205.1:p.Arg1414Gln
NM_019105.6:c.4241G>A	NP_061978.6:p.Arg1414Gln
NM_019105.7:c.4241G>A	NP_061978.6:p.Arg1414Gln
NM_019105.8:c.4241G>A	NP_061978.6:p.Arg1414Gln
ENST00000375244.7:c.4241G>A	ENSP00000364393.3:p.Arg1414Gln
ENST00000613214.4:c.4502G>A	ENSP00000480067.1:p.Arg1501Gln
ENST00000647633.1:c.4982G>A	ENSP00000497649.1:p.Arg1661Gln