Canonical Allele Identifier: CA270063

Gene: EYS PHF3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63778111C>T , CM000668.2:g.63778111C>T	GRCh38
NC_000006.11:g.64488004C>T , CM000668.1:g.64488004C>T	GRCh37
NC_000006.10:g.64545963C>T	NCBI36
NG_023443.1:g.1934115G>A
NG_023443.2:g.1934115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7793G>A (EYS) MANE Select	ENSP00000424243.1:p.Gly2598Asp
ENST00000370616.6:c.7793G>A (EYS)	ENSP00000359650.2:p.Gly2598Asp
ENST00000370618.7:c.7793G>A (EYS)	ENSP00000359652.4:p.Gly2598Asp
ENST00000370621.7:c.7793G>A (EYS)	ENSP00000359655.3:p.Gly2598Asp
ENST00000398580.3:c.1107G>A (EYS)
ENST00000420043.1:n.507C>T (PHF3)
ENST00000503581.5:c.7793G>A (EYS)	ENSP00000424243.1:p.Gly2598Asp
ENST00000505138.1:c.409C>T (PHF3)
NM_001142800.1:c.7793G>A (EYS)	NP_001136272.1:p.Gly2598Asp
NM_001292009.1:c.7793G>A (EYS)	NP_001278938.1:p.Gly2598Asp
NM_001142800.2:c.7793G>A (EYS) MANE Select	NP_001136272.1:p.Gly2598Asp
NM_001292009.2:c.7793G>A (EYS)	NP_001278938.1:p.Gly2598Asp