Canonical Allele Identifier: CA450744246

Gene: EYS

Linked Data

• MyVariant Identifiers: chr6:g.64694401T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984508T>A , CM000668.2:g.63984508T>A	GRCh38
NC_000006.11:g.64694401T>A , CM000668.1:g.64694401T>A	GRCh37
NC_000006.10:g.64752360T>A	NCBI36
NG_023443.1:g.1727718A>T
NG_023443.2:g.1727718A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6930A>T MANE Select	ENSP00000424243.1:p.Leu2310=
ENST00000370616.6:c.6930A>T	ENSP00000359650.2:p.Leu2310=
ENST00000370618.7:c.6930A>T	ENSP00000359652.4:p.Leu2310=
ENST00000370621.7:c.6930A>T	ENSP00000359655.3:p.Leu2310=
ENST00000398580.3:c.244A>T
ENST00000503581.5:c.6930A>T	ENSP00000424243.1:p.Leu2310=
NM_001142800.1:c.6930A>T	NP_001136272.1:p.Leu2310=
NM_001292009.1:c.6930A>T	NP_001278938.1:p.Leu2310=
XR_001744188.1:n.606+16224T>A
XR_001744189.1:n.129+16224T>A
XR_001744190.1:n.197+16224T>A
XR_001744191.1:n.607-1146T>A
NM_001142800.2:c.6930A>T MANE Select	NP_001136272.1:p.Leu2310=
NM_001292009.2:c.6930A>T	NP_001278938.1:p.Leu2310=