Canonical Allele Identifier: CA3878028

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65494695G>A , CM000668.2:g.65494695G>A	GRCh38
NC_000006.11:g.66204588G>A , CM000668.1:g.66204588G>A	GRCh37
NC_000006.10:g.66261309G>A	NCBI36
NG_023443.1:g.217531C>T
NG_023443.2:g.217531C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.716C>T MANE Select	NP_001136272.1:p.Ala239Val
ENST00000503581.6:c.716C>T MANE Select	ENSP00000424243.1:p.Ala239Val
NM_001142800.1:c.716C>T	NP_001136272.1:p.Ala239Val
NM_001142801.1:c.716C>T	NP_001136273.1:p.Ala239Val
NM_001142801.2:c.716C>T	NP_001136273.1:p.Ala239Val
NM_001292009.1:c.716C>T	NP_001278938.1:p.Ala239Val
NM_001292009.2:c.716C>T	NP_001278938.1:p.Ala239Val
NM_198283.1:c.716C>T	NP_938024.1:p.Ala239Val
NM_198283.2:c.716C>T	NP_938024.1:p.Ala239Val
ENST00000342421.9:c.716C>T	ENSP00000341818.5:p.Ala239Val
ENST00000370616.6:c.716C>T	ENSP00000359650.2:p.Ala239Val
ENST00000370618.7:c.716C>T	ENSP00000359652.4:p.Ala239Val
ENST00000370621.7:c.716C>T	ENSP00000359655.3:p.Ala239Val
ENST00000393380.6:c.716C>T	ENSP00000377042.2:p.Ala239Val
ENST00000471279.1:c.407C>T	ENSP00000420530.1:p.Ala136Val
ENST00000489873.1:n.1243C>T
ENST00000503581.5:c.716C>T	ENSP00000424243.1:p.Ala239Val