Canonical Allele Identifier: CA3735820
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32097246C>T , CM000668.2:g.32097246C>T GRCh38
NC_000006.11:g.32065023C>T , CM000668.1:g.32065023C>T GRCh37
NC_000006.10:g.32173001C>T NCBI36
NG_008337.2:g.17129G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.607G>A MANE Select NP_001352205.1:p.Val203Met
ENST00000644971.2:c.607G>A MANE Select ENSP00000496448.1:p.Val203Met
NM_001365276.1:c.607G>A NP_001352205.1:p.Val203Met
NM_019105.6:c.607G>A NP_061978.6:p.Val203Met
NM_019105.7:c.607G>A NP_061978.6:p.Val203Met
NM_019105.8:c.607G>A NP_061978.6:p.Val203Met
ENST00000375244.7:c.607G>A ENSP00000364393.3:p.Val203Met
ENST00000479795.1:c.607G>A ENSP00000418248.1:p.Val203Met
ENST00000486148.1:n.1002G>A
ENST00000613214.4:c.607G>A ENSP00000480067.1:p.Val203Met
ENST00000647633.1:c.607G>A ENSP00000497649.1:p.Val203Met