Canonical Allele Identifier: CA382788249
Gene: CD3D HGNC NCBI

Linked Data

ClinVar Variation Id: 2133775
ClinVar RCV Id: RCV003041101

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118339838T>G , CM000673.2:g.118339838T>G GRCh38
NC_000011.9:g.118210553T>G , CM000673.1:g.118210553T>G GRCh37
NC_000011.8:g.117715763T>G NCBI36
NG_007566.1:g.495T>G , LRG_39:g.495T>G
NG_009891.1:g.7907A>C , LRG_37:g.7907A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695666.1:n.830A>C
ENST00000695667.1:n.348A>C
ENST00000695668.1:n.2328A>C
ENST00000300692.9:c.343A>C MANE Select ENSP00000300692.4:p.Thr115Pro
ENST00000300692.8:c.343A>C ENSP00000300692.4:p.Thr115Pro
ENST00000392884.2:c.275-344A>C ENSP00000376622.2:n.275-344A>C
ENST00000526561.1:n.80-344A>C
ENST00000529594.5:c.124A>C ENSP00000437335.1:p.Thr42Pro
ENST00000534687.5:c.288-344A>C
NM_000732.4:c.343A>C , LRG_37t1:c.343A>C NP_000723.1:p.Thr115Pro
NM_001040651.1:c.275-344A>C NP_001035741.1:n.275-344A>C
NM_001040651.2:c.275-344A>C NP_001035741.1:n.275-344A>C
NM_000732.6:c.343A>C MANE Select NP_000723.1:p.Thr115Pro