Canonical Allele Identifier: CA3735741
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32096806G>C , CM000668.2:g.32096806G>C GRCh38
NC_000006.11:g.32064583G>C , CM000668.1:g.32064583G>C GRCh37
NC_000006.10:g.32172561G>C NCBI36
NG_008337.2:g.17569C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.1047C>G MANE Select NP_001352205.1:p.Gly349=
ENST00000644971.2:c.1047C>G MANE Select ENSP00000496448.1:p.Gly349=
NM_001365276.1:c.1047C>G NP_001352205.1:p.Gly349=
NM_019105.6:c.1047C>G NP_061978.6:p.Gly349=
NM_019105.7:c.1047C>G NP_061978.6:p.Gly349=
NM_019105.8:c.1047C>G NP_061978.6:p.Gly349=
ENST00000375244.7:c.1047C>G ENSP00000364393.3:p.Gly349=
ENST00000479795.1:c.1047C>G ENSP00000418248.1:p.Gly349=
ENST00000486148.1:n.1442C>G
ENST00000613214.4:c.1047C>G ENSP00000480067.1:p.Gly349=
ENST00000647633.1:c.1047C>G ENSP00000497649.1:p.Gly349=