Canonical Allele Identifier: CA346724046
Gene: EPCAM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377064T>C , CM000664.2:g.47377064T>C GRCh38
NC_000002.11:g.47604203T>C , CM000664.1:g.47604203T>C GRCh37
NC_000002.10:g.47457707T>C NCBI36
NG_012352.2:g.36902T>C , LRG_215:g.36902T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.542T>C MANE Select ENSP00000263735.4:p.Ile181Thr
ENST00000263735.8:c.542T>C ENSP00000263735.4:p.Ile181Thr
ENST00000405271.5:c.626T>C ENSP00000385476.1:p.Ile209Thr
ENST00000456133.5:c.626T>C ENSP00000410675.1:p.Ile209Thr
ENST00000490733.1:n.391T>C
NM_002354.2:c.542T>C , LRG_215t1:c.542T>C NP_002345.2:p.Ile181Thr
NM_002354.3:c.542T>C MANE Select NP_002345.2:p.Ile181Thr