Canonical Allele Identifier: CA364781917

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64590796C>A , CM000668.2:g.64590796C>A	GRCh38
NC_000006.11:g.65300689C>A , CM000668.1:g.65300689C>A	GRCh37
NC_000006.10:g.65357410C>A	NCBI36
NG_023443.1:g.1121430G>T
NG_023443.2:g.1121430G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.5071G>T MANE Select	NP_001136272.1:p.Glu1691Ter
ENST00000503581.6:c.5071G>T MANE Select	ENSP00000424243.1:p.Glu1691Ter
NM_001142800.1:c.5071G>T	NP_001136272.1:p.Glu1691Ter
NM_001292009.1:c.5071G>T	NP_001278938.1:p.Glu1691Ter
NM_001292009.2:c.5071G>T	NP_001278938.1:p.Glu1691Ter
ENST00000370616.6:c.5071G>T	ENSP00000359650.2:p.Glu1691Ter
ENST00000370618.7:c.5071G>T	ENSP00000359652.4:p.Glu1691Ter
ENST00000370621.7:c.5071G>T	ENSP00000359655.3:p.Glu1691Ter
ENST00000503581.5:c.5071G>T	ENSP00000424243.1:p.Glu1691Ter