Canonical Allele Identifier: CA8129494
Community Standard Title: NM_001793.6(CDH3):c.1808T>C (p.Val603Ala)
Gene: CDH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68691732T>C , CM000678.2:g.68691732T>C GRCh38
NC_000016.9:g.68725635T>C , CM000678.1:g.68725635T>C GRCh37
NC_000016.8:g.67283136T>C NCBI36
NG_009096.1:g.52485T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001793.6:c.1808T>C MANE Select NP_001784.2:p.Val603Ala
ENST00000264012.9:c.1808T>C MANE Select ENSP00000264012.4:p.Val603Ala
NM_001317195.1:c.1808T>C NP_001304124.1:p.Val603Ala
NM_001317195.2:c.1808T>C NP_001304124.1:p.Val603Ala
NM_001317195.3:c.1808T>C NP_001304124.1:p.Val603Ala
NM_001317196.1:c.1643T>C NP_001304125.1:p.Val548Ala
NM_001317196.2:c.1643T>C NP_001304125.1:p.Val548Ala
NM_001793.4:c.1808T>C NP_001784.2:p.Val603Ala
NM_001793.5:c.1808T>C NP_001784.2:p.Val603Ala
ENST00000264012.8:c.1808T>C ENSP00000264012.4:p.Val603Ala
ENST00000429102.6:c.1808T>C ENSP00000398485.2:p.Val603Ala
ENST00000542274.5:c.*1546T>C ENSP00000464021.1:n.*1546T>C
ENST00000567674.1:c.138T>C
XM_011522800.1:c.1808T>C XP_011521102.1:p.Val603Ala
XM_011522800.3:c.1808T>C XP_011521102.1:p.Val603Ala