Canonical Allele Identifier: CA204421

Gene: EPX

Linked Data

• ClinVar Variation Id: 208340
• ClinVar RCV Id: RCV000190420
• dbSNP Id: rs141055426
• ExAC: 17:56280675 G / A
• gnomAD v2: 17-56280675-G-A
• gnomAD v3: 17-58203314-G-A
• gnomAD v4: 17-58203314-G-A
• MyVariant Identifiers: chr17:g.56280675G>A (hg19) ; chr17:g.58203314G>A (hg38)
• PubMed: PMID:11241847

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58203314G>A , CM000679.2:g.58203314G>A	GRCh38
NC_000017.10:g.56280675G>A , CM000679.1:g.56280675G>A	GRCh37
NC_000017.9:g.53635674G>A	NCBI36
NG_013020.1:g.15587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225371.6:c.1942G>A MANE Select	ENSP00000225371.5:p.Asp648Asn
ENST00000225371.5:c.1942G>A	ENSP00000225371.5:p.Asp648Asn
NM_000502.4:c.1942G>A	NP_000493.1:p.Asp648Asn
NM_000502.5:c.1942G>A	NP_000493.1:p.Asp648Asn
NM_000502.6:c.1942G>A MANE Select	NP_000493.1:p.Asp648Asn