Canonical Allele Identifier: CA1634036018

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65057490C= , CM000668.2:g.65057490C=	GRCh38
NC_000006.11:g.65767383C= , CM000668.1:g.65767383C=	GRCh37
NC_000006.10:g.65824104C=	NCBI36
NG_023443.1:g.654736G=
NG_023443.2:g.654736G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.2137+124G= MANE Select	ENSP00000424243.1:n.2137+124G=
ENST00000370616.6:c.2137+124G=	ENSP00000359650.2:n.2137+124G=
ENST00000370618.7:c.2137+124G=	ENSP00000359652.4:n.2137+124G=
ENST00000370621.7:c.2137+124G=	ENSP00000359655.3:n.2137+124G=
ENST00000503581.5:c.2137+124G=	ENSP00000424243.1:n.2137+124G=
NM_001142800.1:c.2137+124G=	NP_001136272.1:n.2137+124G=
NM_001292009.1:c.2137+124G=	NP_001278938.1:n.2137+124G=
NM_001142800.2:c.2137+124G= MANE Select	NP_001136272.1:n.2137+124G=
NM_001292009.2:c.2137+124G=	NP_001278938.1:n.2137+124G=