Canonical Allele Identifier: CA3733862
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32055928C>A , CM000668.2:g.32055928C>A GRCh38
NC_000006.11:g.32023705C>A , CM000668.1:g.32023705C>A GRCh37
NC_000006.10:g.32131683C>A NCBI36
NG_008337.2:g.58447G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.8390G>T MANE Select NP_001352205.1:p.Gly2797Val
ENST00000644971.2:c.8390G>T MANE Select ENSP00000496448.1:p.Gly2797Val
NM_001365276.1:c.8390G>T NP_001352205.1:p.Gly2797Val
NM_019105.6:c.8390G>T NP_061978.6:p.Gly2797Val
NM_019105.7:c.8390G>T NP_061978.6:p.Gly2797Val
NM_019105.8:c.8390G>T NP_061978.6:p.Gly2797Val
ENST00000375244.7:c.8390G>T ENSP00000364393.3:p.Gly2797Val
ENST00000611016.2:c.1550G>T ENSP00000483409.1:p.Gly517Val
ENST00000647633.1:c.9131G>T ENSP00000497649.1:p.Gly3044Val