Canonical Allele Identifier: CA12516400
Gene: EPO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100722313G>A , CM000669.2:g.100722313G>A GRCh38
NC_000007.13:g.100319936G>A , CM000669.1:g.100319936G>A GRCh37
NC_000007.12:g.100157872G>A NCBI36
NG_021471.1:g.6514G>A
NG_021471.2:g.6514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252723.3:c.246+265G>A MANE Select ENSP00000252723.2:n.246+265G>A
ENST00000252723.2:c.246+265G>A ENSP00000252723.2:n.246+265G>A
NM_000799.2:c.246+265G>A NP_000790.2:n.246+265G>A
NM_000799.3:c.246+265G>A NP_000790.2:n.246+265G>A
NM_000799.4:c.246+265G>A MANE Select NP_000790.2:n.246+265G>A