Canonical Allele Identifier: CA1633664661

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64307024C= , CM000668.2:g.64307024C=	GRCh38
NC_000006.11:g.65016917C= , CM000668.1:g.65016917C=	GRCh37
NC_000006.10:g.65074876C=	NCBI36
NG_023443.1:g.1405202G=
NG_023443.2:g.1405202G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.6137G= MANE Select	NP_001136272.1:p.Trp2046=
ENST00000503581.6:c.6137G= MANE Select	ENSP00000424243.1:p.Trp2046=
NM_001142800.1:c.6137G=	NP_001136272.1:p.Trp2046=
NM_001292009.1:c.6137G=	NP_001278938.1:p.Trp2046=
NM_001292009.2:c.6137G=	NP_001278938.1:p.Trp2046=
ENST00000370616.6:c.6137G=	ENSP00000359650.2:p.Trp2046=
ENST00000370618.7:c.6137G=	ENSP00000359652.4:p.Trp2046=
ENST00000370621.7:c.6137G=	ENSP00000359655.3:p.Trp2046=
ENST00000503581.5:c.6137G=	ENSP00000424243.1:p.Trp2046=