Canonical Allele Identifier: CA3733802

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32053637C>G , CM000668.2:g.32053637C>G	GRCh38
NC_000006.11:g.32021414C>G , CM000668.1:g.32021414C>G	GRCh37
NC_000006.10:g.32129392C>G	NCBI36
NG_008337.2:g.60738G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.8542G>C MANE Select	NP_001352205.1:p.Gly2848Arg
ENST00000644971.2:c.8542G>C MANE Select	ENSP00000496448.1:p.Gly2848Arg
NM_001365276.1:c.8542G>C	NP_001352205.1:p.Gly2848Arg
NM_019105.6:c.8536G>C	NP_061978.6:p.Gly2846Arg
NM_019105.7:c.8536G>C	NP_061978.6:p.Gly2846Arg
NM_019105.8:c.8536G>C	NP_061978.6:p.Gly2846Arg
ENST00000375244.7:c.8542G>C	ENSP00000364393.3:p.Gly2848Arg
ENST00000611016.2:c.1696G>C	ENSP00000483409.1:p.Gly566Arg
ENST00000647633.1:c.9283G>C	ENSP00000497649.1:p.Gly3095Arg