Canonical Allele Identifier: CA16621840

Gene: EYS PHF3

Linked Data

• ClinVar Variation Id: 425383
• ClinVar RCV Id: RCV000487546 ; RCV001199691
• dbSNP Id: rs1064797324
• gnomAD v2: 6-64472390-A-C
• gnomAD v4: 6-63762497-A-C
• MyVariant Identifiers: chr6:g.64472390A>C (hg19) ; chr6:g.63762497A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63762497A>C , CM000668.2:g.63762497A>C	GRCh38
NC_000006.11:g.64472390A>C , CM000668.1:g.64472390A>C	GRCh37
NC_000006.10:g.64530349A>C	NCBI36
NG_023443.1:g.1949729T>G
NG_023443.2:g.1949729T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.8035T>G (EYS) MANE Select	ENSP00000424243.1:p.Cys2679Gly
ENST00000370616.6:c.8035T>G (EYS)	ENSP00000359650.2:p.Cys2679Gly
ENST00000370618.7:c.8035T>G (EYS)	ENSP00000359652.4:p.Cys2679Gly
ENST00000370621.7:c.8035T>G (EYS)	ENSP00000359655.3:p.Cys2679Gly
ENST00000398580.3:c.1349T>G (EYS)
ENST00000503581.5:c.8035T>G (EYS)	ENSP00000424243.1:p.Cys2679Gly
ENST00000505138.1:c.364-15569A>C (PHF3)
NM_001142800.1:c.8035T>G (EYS)	NP_001136272.1:p.Cys2679Gly
NM_001292009.1:c.8035T>G (EYS)	NP_001278938.1:p.Cys2679Gly
NM_001142800.2:c.8035T>G (EYS) MANE Select	NP_001136272.1:p.Cys2679Gly
NM_001292009.2:c.8035T>G (EYS)	NP_001278938.1:p.Cys2679Gly