Canonical Allele Identifier: CA364386521

Gene: EYS PHF3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63726682T>C , CM000668.2:g.63726682T>C	GRCh38
NC_000006.11:g.64436575T>C , CM000668.1:g.64436575T>C	GRCh37
NC_000006.10:g.64494534T>C	NCBI36
NG_023443.1:g.1985544A>G
NG_023443.2:g.1985544A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.8072-2A>G (EYS) MANE Select	NP_001136272.1:n.8072-2A>G
ENST00000503581.6:c.8072-2A>G (EYS) MANE Select	ENSP00000424243.1:n.8072-2A>G
NM_001142800.1:c.8072-2A>G (EYS)	NP_001136272.1:n.8072-2A>G
NM_001292009.1:c.8135-2A>G (EYS)	NP_001278938.1:n.8135-2A>G
NM_001292009.2:c.8135-2A>G (EYS)	NP_001278938.1:n.8135-2A>G
ENST00000370616.6:c.8135-2A>G (EYS)	ENSP00000359650.2:n.8135-2A>G
ENST00000370618.7:c.8072-2A>G (EYS)	ENSP00000359652.4:n.8072-2A>G
ENST00000370621.7:c.8135-2A>G (EYS)	ENSP00000359655.3:n.8135-2A>G
ENST00000503581.5:c.8072-2A>G (EYS)	ENSP00000424243.1:n.8072-2A>G
ENST00000505138.1:c.363+15320T>C (PHF3)