Canonical Allele Identifier: CA3876780
Community Standard Title: NM_001142800.2(EYS):c.7724-12C>T
Gene: EYS HGNC NCBI
PHF3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63778192G>A , CM000668.2:g.63778192G>A GRCh38
NC_000006.11:g.64488085G>A , CM000668.1:g.64488085G>A GRCh37
NC_000006.10:g.64546044G>A NCBI36
NG_023443.1:g.1934034C>T
NG_023443.2:g.1934034C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001142800.2:c.7724-12C>T (EYS) MANE Select NP_001136272.1:n.7724-12C>T
ENST00000503581.6:c.7724-12C>T (EYS) MANE Select ENSP00000424243.1:n.7724-12C>T
NM_001142800.1:c.7724-12C>T (EYS) NP_001136272.1:n.7724-12C>T
NM_001292009.1:c.7724-12C>T (EYS) NP_001278938.1:n.7724-12C>T
NM_001292009.2:c.7724-12C>T (EYS) NP_001278938.1:n.7724-12C>T
ENST00000370616.6:c.7724-12C>T (EYS) ENSP00000359650.2:n.7724-12C>T
ENST00000370618.7:c.7724-12C>T (EYS) ENSP00000359652.4:n.7724-12C>T
ENST00000370621.7:c.7724-12C>T (EYS) ENSP00000359655.3:n.7724-12C>T
ENST00000398580.3:c.1038-12C>T (EYS)
ENST00000420043.1:n.588G>A (PHF3)
ENST00000503581.5:c.7724-12C>T (EYS) ENSP00000424243.1:n.7724-12C>T
ENST00000505138.1:c.490G>A (PHF3)
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