Canonical Allele Identifier: CA6301884
Community Standard Title: NM_000732.6(CD3D):c.416C>T (p.Thr139Ile)
Gene: CD3D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118339485G>A , CM000673.2:g.118339485G>A GRCh38
NC_000011.9:g.118210200G>A , CM000673.1:g.118210200G>A GRCh37
NC_000011.8:g.117715410G>A NCBI36
NG_007566.1:g.142G>A , LRG_39:g.142G>A
NG_009891.1:g.8260C>T , LRG_37:g.8260C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000732.6:c.416C>T MANE Select NP_000723.1:p.Thr139Ile
ENST00000300692.9:c.416C>T MANE Select ENSP00000300692.4:p.Thr139Ile
NM_000732.4:c.416C>T , LRG_37t1:c.416C>T NP_000723.1:p.Thr139Ile
NM_001040651.1:c.284C>T NP_001035741.1:p.Thr95Ile
NM_001040651.2:c.284C>T NP_001035741.1:p.Thr95Ile
ENST00000300692.8:c.416C>T ENSP00000300692.4:p.Thr139Ile
ENST00000392884.2:c.284C>T ENSP00000376622.2:p.Thr95Ile
ENST00000526561.1:n.89C>T
ENST00000529594.5:c.197C>T ENSP00000437335.1:p.Thr66Ile
ENST00000534687.5:c.297C>T
ENST00000695666.1:n.1183C>T
ENST00000695667.1:n.701C>T