Canonical Allele Identifier: CA8129132
Community Standard Title: NM_001793.6(CDH3):c.720G>A (p.Thr240=)
Gene: CDH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68679827G>A , CM000678.2:g.68679827G>A GRCh38
NC_000016.9:g.68713730G>A , CM000678.1:g.68713730G>A GRCh37
NC_000016.8:g.67271231G>A NCBI36
NG_009096.1:g.40580G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001793.6:c.720G>A MANE Select NP_001784.2:p.Thr240=
ENST00000264012.9:c.720G>A MANE Select ENSP00000264012.4:p.Thr240=
NM_001317195.1:c.720G>A NP_001304124.1:p.Thr240=
NM_001317195.2:c.720G>A NP_001304124.1:p.Thr240=
NM_001317195.3:c.720G>A NP_001304124.1:p.Thr240=
NM_001317196.1:c.555G>A NP_001304125.1:p.Thr185=
NM_001317196.2:c.555G>A NP_001304125.1:p.Thr185=
NM_001793.4:c.720G>A NP_001784.2:p.Thr240=
NM_001793.5:c.720G>A NP_001784.2:p.Thr240=
ENST00000264012.8:c.720G>A ENSP00000264012.4:p.Thr240=
ENST00000429102.6:c.720G>A ENSP00000398485.2:p.Thr240=
ENST00000542274.5:c.*458G>A ENSP00000464021.1:n.*458G>A
ENST00000569036.2:c.196G>A
XM_011522800.1:c.720G>A XP_011521102.1:p.Thr240=
XM_011522800.3:c.720G>A XP_011521102.1:p.Thr240=