Canonical Allele Identifier: CA364385803

Gene: EYS PHF3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63726546C>G , CM000668.2:g.63726546C>G	GRCh38
NC_000006.11:g.64436439C>G , CM000668.1:g.64436439C>G	GRCh37
NC_000006.10:g.64494398C>G	NCBI36
NG_023443.1:g.1985680G>C
NG_023443.2:g.1985680G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.8206G>C (EYS) MANE Select	NP_001136272.1:p.Ala2736Pro
ENST00000503581.6:c.8206G>C (EYS) MANE Select	ENSP00000424243.1:p.Ala2736Pro
NM_001142800.1:c.8206G>C (EYS)	NP_001136272.1:p.Ala2736Pro
NM_001292009.1:c.8269G>C (EYS)	NP_001278938.1:p.Ala2757Pro
NM_001292009.2:c.8269G>C (EYS)	NP_001278938.1:p.Ala2757Pro
ENST00000370616.6:c.8269G>C (EYS)	ENSP00000359650.2:p.Ala2757Pro
ENST00000370618.7:c.8206G>C (EYS)	ENSP00000359652.4:p.Ala2736Pro
ENST00000370621.7:c.8269G>C (EYS)	ENSP00000359655.3:p.Ala2757Pro
ENST00000503581.5:c.8206G>C (EYS)	ENSP00000424243.1:p.Ala2736Pro
ENST00000505138.1:c.363+15184C>G (PHF3)