Canonical Allele Identifier: CA364388011

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984421A>T , CM000668.2:g.63984421A>T	GRCh38
NC_000006.11:g.64694314A>T , CM000668.1:g.64694314A>T	GRCh37
NC_000006.10:g.64752273A>T	NCBI36
NG_023443.1:g.1727805T>A
NG_023443.2:g.1727805T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.7017T>A MANE Select	NP_001136272.1:p.Cys2339Ter
ENST00000503581.6:c.7017T>A MANE Select	ENSP00000424243.1:p.Cys2339Ter
NM_001142800.1:c.7017T>A	NP_001136272.1:p.Cys2339Ter
NM_001292009.1:c.7017T>A	NP_001278938.1:p.Cys2339Ter
NM_001292009.2:c.7017T>A	NP_001278938.1:p.Cys2339Ter
ENST00000370616.6:c.7017T>A	ENSP00000359650.2:p.Cys2339Ter
ENST00000370618.7:c.7017T>A	ENSP00000359652.4:p.Cys2339Ter
ENST00000370621.7:c.7017T>A	ENSP00000359655.3:p.Cys2339Ter
ENST00000398580.3:c.331T>A
ENST00000503581.5:c.7017T>A	ENSP00000424243.1:p.Cys2339Ter
XR_001744188.1:n.606+16137A>T
XR_001744189.1:n.129+16137A>T
XR_001744190.1:n.197+16137A>T
XR_001744191.1:n.607-1233A>T