Canonical Allele Identifier: CA1633507911

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984363A= , CM000668.2:g.63984363A=	GRCh38
NC_000006.11:g.64694256A= , CM000668.1:g.64694256A=	GRCh37
NC_000006.10:g.64752215A=	NCBI36
NG_023443.1:g.1727863T=
NG_023443.2:g.1727863T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.7055+20T= MANE Select	ENSP00000424243.1:n.7055+20T=
ENST00000370616.6:c.7055+20T=	ENSP00000359650.2:n.7055+20T=
ENST00000370618.7:c.7055+20T=	ENSP00000359652.4:n.7055+20T=
ENST00000370621.7:c.7055+20T=	ENSP00000359655.3:n.7055+20T=
ENST00000398580.3:c.369+20T=
ENST00000503581.5:c.7055+20T=	ENSP00000424243.1:n.7055+20T=
NM_001142800.1:c.7055+20T=	NP_001136272.1:n.7055+20T=
NM_001292009.1:c.7055+20T=	NP_001278938.1:n.7055+20T=
XR_001744188.1:n.606+16079A=
XR_001744189.1:n.129+16079A=
XR_001744190.1:n.197+16079A=
XR_001744191.1:n.607-1291A=
NM_001142800.2:c.7055+20T= MANE Select	NP_001136272.1:n.7055+20T=
NM_001292009.2:c.7055+20T=	NP_001278938.1:n.7055+20T=