Canonical Allele Identifier: CA9210532

Gene: EPOR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11378201C>T , CM000681.2:g.11378201C>T	GRCh38
NC_000019.9:g.11488877C>T , CM000681.1:g.11488877C>T	GRCh37
NC_000019.8:g.11349877C>T	NCBI36
NG_021395.1:g.11142G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000121.4:c.1310G>A MANE Select	NP_000112.1:p.Arg437His
ENST00000222139.11:c.1310G>A MANE Select	ENSP00000222139.5:p.Arg437His
NM_000121.3:c.1310G>A	NP_000112.1:p.Arg437His
NR_033663.1:n.1695G>A
NR_033663.2:n.1667G>A
ENST00000222139.10:c.1310G>A	ENSP00000222139.5:p.Arg437His
ENST00000586890.5:c.*1053G>A	ENSP00000467230.1:n.*1053G>A
ENST00000588681.5:n.1695G>A
ENST00000588859.5:c.*1053G>A	ENSP00000466784.1:n.*1053G>A
ENST00000591958.5:c.*688G>A	ENSP00000468187.1:n.*688G>A
ENST00000592375.6:c.*418G>A	ENSP00000467809.2:n.*418G>A