Canonical Allele Identifier: CA126703

Gene: EPOR

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11378233G>C , CM000681.2:g.11378233G>C	GRCh38
NC_000019.9:g.11488909G>C , CM000681.1:g.11488909G>C	GRCh37
NC_000019.8:g.11349909G>C	NCBI36
NG_021395.1:g.11110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222139.11:c.1278C>G MANE Select	ENSP00000222139.5:p.Tyr426Ter
ENST00000222139.10:c.1278C>G	ENSP00000222139.5:p.Tyr426Ter
ENST00000586890.5:c.*1021C>G	ENSP00000467230.1:n.*1021C>G
ENST00000588681.5:n.1663C>G
ENST00000588859.5:c.*1021C>G	ENSP00000466784.1:n.*1021C>G
ENST00000591958.5:c.*656C>G	ENSP00000468187.1:n.*656C>G
ENST00000592375.6:c.*386C>G	ENSP00000467809.2:n.*386C>G
NM_000121.3:c.1278C>G	NP_000112.1:p.Tyr426Ter
NR_033663.1:n.1663C>G
NM_000121.4:c.1278C>G MANE Select	NP_000112.1:p.Tyr426Ter
NR_033663.2:n.1635C>G