Canonical Allele Identifier: CA3878053

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65494825T>G , CM000668.2:g.65494825T>G	GRCh38
NC_000006.11:g.66204718T>G , CM000668.1:g.66204718T>G	GRCh37
NC_000006.10:g.66261439T>G	NCBI36
NG_023443.1:g.217401A>C
NG_023443.2:g.217401A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.586A>C MANE Select	NP_001136272.1:p.Lys196Gln
ENST00000503581.6:c.586A>C MANE Select	ENSP00000424243.1:p.Lys196Gln
NM_001142800.1:c.586A>C	NP_001136272.1:p.Lys196Gln
NM_001142801.1:c.586A>C	NP_001136273.1:p.Lys196Gln
NM_001142801.2:c.586A>C	NP_001136273.1:p.Lys196Gln
NM_001292009.1:c.586A>C	NP_001278938.1:p.Lys196Gln
NM_001292009.2:c.586A>C	NP_001278938.1:p.Lys196Gln
NM_198283.1:c.586A>C	NP_938024.1:p.Lys196Gln
NM_198283.2:c.586A>C	NP_938024.1:p.Lys196Gln
ENST00000342421.9:c.586A>C	ENSP00000341818.5:p.Lys196Gln
ENST00000370616.6:c.586A>C	ENSP00000359650.2:p.Lys196Gln
ENST00000370618.7:c.586A>C	ENSP00000359652.4:p.Lys196Gln
ENST00000370621.7:c.586A>C	ENSP00000359655.3:p.Lys196Gln
ENST00000393380.6:c.586A>C	ENSP00000377042.2:p.Lys196Gln
ENST00000471279.1:c.277A>C	ENSP00000420530.1:p.Lys93Gln
ENST00000489873.1:n.1113A>C
ENST00000503581.5:c.586A>C	ENSP00000424243.1:p.Lys196Gln