Canonical Allele Identifier: CA9210880

Gene: EPOR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11383133A>G , CM000681.2:g.11383133A>G	GRCh38
NC_000019.9:g.11493809A>G , CM000681.1:g.11493809A>G	GRCh37
NC_000019.8:g.11354809A>G	NCBI36
NG_021395.1:g.6210T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000121.4:c.215T>C MANE Select	NP_000112.1:p.Val72Ala
ENST00000222139.11:c.215T>C MANE Select	ENSP00000222139.5:p.Val72Ala
NM_000121.3:c.215T>C	NP_000112.1:p.Val72Ala
NR_033663.1:n.350T>C
NR_033663.2:n.322T>C
ENST00000222139.10:c.215T>C	ENSP00000222139.5:p.Val72Ala
ENST00000586890.5:c.215T>C	ENSP00000467230.1:p.Val72Ala
ENST00000588681.5:n.350T>C
ENST00000588859.5:c.215T>C	ENSP00000466784.1:p.Val72Ala
ENST00000589402.1:n.124T>C
ENST00000591958.5:c.320T>C	ENSP00000468187.1:p.Val107Ala
ENST00000592375.6:c.215T>C	ENSP00000467809.2:p.Val72Ala