Canonical Allele Identifier: CA140237393

Gene: EYS PHF3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63726541T>G , CM000668.2:g.63726541T>G	GRCh38
NC_000006.11:g.64436434T>G , CM000668.1:g.64436434T>G	GRCh37
NC_000006.10:g.64494393T>G	NCBI36
NG_023443.1:g.1985685A>C
NG_023443.2:g.1985685A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.8211A>C (EYS) MANE Select	NP_001136272.1:p.Ala2737=
ENST00000503581.6:c.8211A>C (EYS) MANE Select	ENSP00000424243.1:p.Ala2737=
NM_001142800.1:c.8211A>C (EYS)	NP_001136272.1:p.Ala2737=
NM_001292009.1:c.8274A>C (EYS)	NP_001278938.1:p.Ala2758=
NM_001292009.2:c.8274A>C (EYS)	NP_001278938.1:p.Ala2758=
ENST00000370616.6:c.8274A>C (EYS)	ENSP00000359650.2:p.Ala2758=
ENST00000370618.7:c.8211A>C (EYS)	ENSP00000359652.4:p.Ala2737=
ENST00000370621.7:c.8274A>C (EYS)	ENSP00000359655.3:p.Ala2758=
ENST00000503581.5:c.8211A>C (EYS)	ENSP00000424243.1:p.Ala2737=
ENST00000505138.1:c.363+15179T>G (PHF3)