Canonical Allele Identifier: CA1634036013

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65057482T= , CM000668.2:g.65057482T=	GRCh38
NC_000006.11:g.65767375T= , CM000668.1:g.65767375T=	GRCh37
NC_000006.10:g.65824096T=	NCBI36
NG_023443.1:g.654744A=
NG_023443.2:g.654744A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.2137+132A= MANE Select	ENSP00000424243.1:n.2137+132A=
ENST00000370616.6:c.2137+132A=	ENSP00000359650.2:n.2137+132A=
ENST00000370618.7:c.2137+132A=	ENSP00000359652.4:n.2137+132A=
ENST00000370621.7:c.2137+132A=	ENSP00000359655.3:n.2137+132A=
ENST00000503581.5:c.2137+132A=	ENSP00000424243.1:n.2137+132A=
NM_001142800.1:c.2137+132A=	NP_001136272.1:n.2137+132A=
NM_001292009.1:c.2137+132A=	NP_001278938.1:n.2137+132A=
NM_001142800.2:c.2137+132A= MANE Select	NP_001136272.1:n.2137+132A=
NM_001292009.2:c.2137+132A=	NP_001278938.1:n.2137+132A=