Canonical Allele Identifier: CA364788071

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64822812A>T , CM000668.2:g.64822812A>T	GRCh38
NC_000006.11:g.65532705A>T , CM000668.1:g.65532705A>T	GRCh37
NC_000006.10:g.65589426A>T	NCBI36
NG_023443.1:g.889414T>A
NG_023443.2:g.889414T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.3003T>A MANE Select	NP_001136272.1:p.Cys1001Ter
ENST00000503581.6:c.3003T>A MANE Select	ENSP00000424243.1:p.Cys1001Ter
NM_001142800.1:c.3003T>A	NP_001136272.1:p.Cys1001Ter
NM_001292009.1:c.3003T>A	NP_001278938.1:p.Cys1001Ter
NM_001292009.2:c.3003T>A	NP_001278938.1:p.Cys1001Ter
ENST00000370616.6:c.3003T>A	ENSP00000359650.2:p.Cys1001Ter
ENST00000370618.7:c.3003T>A	ENSP00000359652.4:p.Cys1001Ter
ENST00000370621.7:c.3003T>A	ENSP00000359655.3:p.Cys1001Ter
ENST00000503581.5:c.3003T>A	ENSP00000424243.1:p.Cys1001Ter