Canonical Allele Identifier: CA337460
Community Standard Title: NM_002354.3(EPCAM):c.518G>A (p.Arg173His)
Gene: EPCAM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377040G>A , CM000664.2:g.47377040G>A GRCh38
NC_000002.11:g.47604179G>A , CM000664.1:g.47604179G>A GRCh37
NC_000002.10:g.47457683G>A NCBI36
NG_012352.2:g.36878G>A , LRG_215:g.36878G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002354.3:c.518G>A MANE Select NP_002345.2:p.Arg173His
ENST00000263735.9:c.518G>A MANE Select ENSP00000263735.4:p.Arg173His
NM_002354.2:c.518G>A , LRG_215t1:c.518G>A NP_002345.2:p.Arg173His
ENST00000263735.8:c.518G>A ENSP00000263735.4:p.Arg173His
ENST00000405271.5:c.602G>A ENSP00000385476.1:p.Arg201His
ENST00000456133.5:c.602G>A ENSP00000410675.1:p.Arg201His
ENST00000490733.1:n.367G>A
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