Canonical Allele Identifier: CA1030244074
Gene: EPCAM-DT HGNC NCBI

Linked Data

gnomAD v3: 2-47254339-T-C
gnomAD v4: 2-47254339-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47254339T>C , CM000664.2:g.47254339T>C GRCh38
NC_000002.11:g.47481478T>C , CM000664.1:g.47481478T>C GRCh37
NC_000002.10:g.47334982T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_110207.1:n.175-33016A>G
NR_110208.1:n.404-54796A>G
XR_001739451.1:n.606-1454A>G