Canonical Allele Identifier: CA9210685

Gene: EPOR

Linked Data

• ClinVar Variation Id: 328148
• ClinVar RCV Id: RCV000379775 ; RCV000879908
• dbSNP Id: rs61729384
• ExAC: 19:11491814 G / T
• gnomAD v2: 19-11491814-G-T
• gnomAD v3: 19-11381138-G-T
• gnomAD v4: 19-11381138-G-T
• MyVariant Identifiers: chr19:g.11491814G>T (hg19) ; chr19:g.11381138G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11381138G>T , CM000681.2:g.11381138G>T	GRCh38
NC_000019.9:g.11491814G>T , CM000681.1:g.11491814G>T	GRCh37
NC_000019.8:g.11352814G>T	NCBI36
NG_021395.1:g.8205C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222139.11:c.657C>A MANE Select	ENSP00000222139.5:p.Ala219=
ENST00000222139.10:c.657C>A	ENSP00000222139.5:p.Ala219=
ENST00000586890.5:c.*400C>A	ENSP00000467230.1:n.*400C>A
ENST00000588681.5:n.1042C>A
ENST00000588859.5:c.*400C>A	ENSP00000466784.1:n.*400C>A
ENST00000589402.1:n.816C>A
ENST00000590927.1:n.101C>A
ENST00000591958.5:c.*35C>A	ENSP00000468187.1:n.*35C>A
ENST00000592375.6:c.657C>A	ENSP00000467809.2:p.Ala219=
NM_000121.3:c.657C>A	NP_000112.1:p.Ala219=
NR_033663.1:n.1042C>A
NM_000121.4:c.657C>A MANE Select	NP_000112.1:p.Ala219=
NR_033663.2:n.1014C>A