Canonical Allele Identifier: CA9210689

Gene: EPOR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11381185C>G , CM000681.2:g.11381185C>G	GRCh38
NC_000019.9:g.11491861C>G , CM000681.1:g.11491861C>G	GRCh37
NC_000019.8:g.11352861C>G	NCBI36
NG_021395.1:g.8158G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000121.4:c.610G>C MANE Select	NP_000112.1:p.Glu204Gln
ENST00000222139.11:c.610G>C MANE Select	ENSP00000222139.5:p.Glu204Gln
NM_000121.3:c.610G>C	NP_000112.1:p.Glu204Gln
NR_033663.1:n.995G>C
NR_033663.2:n.967G>C
ENST00000222139.10:c.610G>C	ENSP00000222139.5:p.Glu204Gln
ENST00000586890.5:c.*353G>C	ENSP00000467230.1:n.*353G>C
ENST00000588681.5:n.995G>C
ENST00000588859.5:c.*353G>C	ENSP00000466784.1:n.*353G>C
ENST00000589402.1:n.769G>C
ENST00000590927.1:n.54G>C
ENST00000591958.5:c.819G>C	ENSP00000468187.1:p.Pro273=
ENST00000592375.6:c.610G>C	ENSP00000467809.2:p.Glu204Gln