Canonical Allele Identifier: CA364387295

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984382C>T , CM000668.2:g.63984382C>T	GRCh38
NC_000006.11:g.64694275C>T , CM000668.1:g.64694275C>T	GRCh37
NC_000006.10:g.64752234C>T	NCBI36
NG_023443.1:g.1727844G>A
NG_023443.2:g.1727844G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.7055+1G>A MANE Select	NP_001136272.1:n.7055+1G>A
ENST00000503581.6:c.7055+1G>A MANE Select	ENSP00000424243.1:n.7055+1G>A
NM_001142800.1:c.7055+1G>A	NP_001136272.1:n.7055+1G>A
NM_001292009.1:c.7055+1G>A	NP_001278938.1:n.7055+1G>A
NM_001292009.2:c.7055+1G>A	NP_001278938.1:n.7055+1G>A
ENST00000370616.6:c.7055+1G>A	ENSP00000359650.2:n.7055+1G>A
ENST00000370618.7:c.7055+1G>A	ENSP00000359652.4:n.7055+1G>A
ENST00000370621.7:c.7055+1G>A	ENSP00000359655.3:n.7055+1G>A
ENST00000398580.3:c.369+1G>A
ENST00000503581.5:c.7055+1G>A	ENSP00000424243.1:n.7055+1G>A
XR_001744188.1:n.606+16098C>T
XR_001744189.1:n.129+16098C>T
XR_001744190.1:n.197+16098C>T
XR_001744191.1:n.607-1272C>T