Canonical Allele Identifier: CA229521814
Community Standard Title: NM_000732.6(CD3D):c.506G>A (p.Arg169Gln)
Gene: CD3D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118339172C>T , CM000673.2:g.118339172C>T GRCh38
NC_000011.9:g.118209887C>T , CM000673.1:g.118209887C>T GRCh37
NC_000011.8:g.117715097C>T NCBI36
NG_009891.1:g.8573G>A , LRG_37:g.8573G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000732.6:c.506G>A MANE Select NP_000723.1:p.Arg169Gln
ENST00000300692.9:c.506G>A MANE Select ENSP00000300692.4:p.Arg169Gln
NM_000732.4:c.506G>A , LRG_37t1:c.506G>A NP_000723.1:p.Arg169Gln
NM_001040651.1:c.374G>A NP_001035741.1:p.Arg125Gln
NM_001040651.2:c.374G>A NP_001035741.1:p.Arg125Gln
ENST00000300692.8:c.506G>A ENSP00000300692.4:p.Arg169Gln
ENST00000392884.2:c.374G>A ENSP00000376622.2:p.Arg125Gln
ENST00000526561.1:n.179G>A
ENST00000529594.5:c.287G>A ENSP00000437335.1:p.Arg96Gln
ENST00000534687.5:c.387G>A
ENST00000695666.1:n.1273G>A
ENST00000695667.1:n.791G>A