Canonical Allele Identifier: CA364386012

Gene: EYS PHF3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63726585G>A , CM000668.2:g.63726585G>A	GRCh38
NC_000006.11:g.64436478G>A , CM000668.1:g.64436478G>A	GRCh37
NC_000006.10:g.64494437G>A	NCBI36
NG_023443.1:g.1985641C>T
NG_023443.2:g.1985641C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.8167C>T (EYS) MANE Select	NP_001136272.1:p.Gln2723Ter
ENST00000503581.6:c.8167C>T (EYS) MANE Select	ENSP00000424243.1:p.Gln2723Ter
NM_001142800.1:c.8167C>T (EYS)	NP_001136272.1:p.Gln2723Ter
NM_001292009.1:c.8230C>T (EYS)	NP_001278938.1:p.Gln2744Ter
NM_001292009.2:c.8230C>T (EYS)	NP_001278938.1:p.Gln2744Ter
ENST00000370616.6:c.8230C>T (EYS)	ENSP00000359650.2:p.Gln2744Ter
ENST00000370618.7:c.8167C>T (EYS)	ENSP00000359652.4:p.Gln2723Ter
ENST00000370621.7:c.8230C>T (EYS)	ENSP00000359655.3:p.Gln2744Ter
ENST00000503581.5:c.8167C>T (EYS)	ENSP00000424243.1:p.Gln2723Ter
ENST00000505138.1:c.363+15223G>A (PHF3)