Canonical Allele Identifier: CA1634036044
Gene: EYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.65057521T= , CM000668.2:g.65057521T= GRCh38
NC_000006.11:g.65767414T= , CM000668.1:g.65767414T= GRCh37
NC_000006.10:g.65824135T= NCBI36
NG_023443.1:g.654705A=
NG_023443.2:g.654705A=

Transcript Alleles

HGVS Amino-acid change
ENST00000503581.6:c.2137+93A= MANE Select ENSP00000424243.1:n.2137+93A=
ENST00000370616.6:c.2137+93A= ENSP00000359650.2:n.2137+93A=
ENST00000370618.7:c.2137+93A= ENSP00000359652.4:n.2137+93A=
ENST00000370621.7:c.2137+93A= ENSP00000359655.3:n.2137+93A=
ENST00000503581.5:c.2137+93A= ENSP00000424243.1:n.2137+93A=
NM_001142800.1:c.2137+93A= NP_001136272.1:n.2137+93A=
NM_001292009.1:c.2137+93A= NP_001278938.1:n.2137+93A=
NM_001142800.2:c.2137+93A= MANE Select NP_001136272.1:n.2137+93A=
NM_001292009.2:c.2137+93A= NP_001278938.1:n.2137+93A=