Canonical Allele Identifier: CA364387781

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63806273T>G , CM000668.2:g.63806273T>G	GRCh38
NC_000006.11:g.64516166T>G , CM000668.1:g.64516166T>G	GRCh37
NC_000006.10:g.64574125T>G	NCBI36
NG_023443.1:g.1905953A>C
NG_023443.2:g.1905953A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.7328A>C MANE Select	NP_001136272.1:p.Glu2443Ala
ENST00000503581.6:c.7328A>C MANE Select	ENSP00000424243.1:p.Glu2443Ala
NM_001142800.1:c.7328A>C	NP_001136272.1:p.Glu2443Ala
NM_001292009.1:c.7328A>C	NP_001278938.1:p.Glu2443Ala
NM_001292009.2:c.7328A>C	NP_001278938.1:p.Glu2443Ala
ENST00000370616.6:c.7328A>C	ENSP00000359650.2:p.Glu2443Ala
ENST00000370618.7:c.7328A>C	ENSP00000359652.4:p.Glu2443Ala
ENST00000370621.7:c.7328A>C	ENSP00000359655.3:p.Glu2443Ala
ENST00000398580.3:c.642A>C
ENST00000503581.5:c.7328A>C	ENSP00000424243.1:p.Glu2443Ala