Canonical Allele Identifier: CA140380275

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64912580G>A , CM000668.2:g.64912580G>A	GRCh38
NC_000006.11:g.65622473G>A , CM000668.1:g.65622473G>A	GRCh37
NC_000006.10:g.65679194G>A	NCBI36
NG_023443.1:g.799646C>T
NG_023443.2:g.799646C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.2545C>T MANE Select	NP_001136272.1:p.Arg849Cys
ENST00000503581.6:c.2545C>T MANE Select	ENSP00000424243.1:p.Arg849Cys
NM_001142800.1:c.2545C>T	NP_001136272.1:p.Arg849Cys
NM_001292009.1:c.2545C>T	NP_001278938.1:p.Arg849Cys
NM_001292009.2:c.2545C>T	NP_001278938.1:p.Arg849Cys
ENST00000370616.6:c.2545C>T	ENSP00000359650.2:p.Arg849Cys
ENST00000370618.7:c.2545C>T	ENSP00000359652.4:p.Arg849Cys
ENST00000370621.7:c.2545C>T	ENSP00000359655.3:p.Arg849Cys
ENST00000503581.5:c.2545C>T	ENSP00000424243.1:p.Arg849Cys