Canonical Allele Identifier: CA1089806644
Gene: EYS HGNC NCBI

Linked Data

dbSNP Id: rs1771979129
gnomAD v3: 6-64081803-C-T
gnomAD v4: 6-64081803-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64081803C>T , CM000668.2:g.64081803C>T GRCh38
NC_000006.11:g.64791696C>T , CM000668.1:g.64791696C>T GRCh37
NC_000006.10:g.64849655C>T NCBI36
NG_023443.1:g.1630423G>A
NG_023443.2:g.1630423G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6571+53G>A MANE Select ENSP00000424243.1:n.6571+53G>A
ENST00000370616.6:c.6571+53G>A ENSP00000359650.2:n.6571+53G>A
ENST00000370618.7:c.6571+53G>A ENSP00000359652.4:n.6571+53G>A
ENST00000370621.7:c.6571+53G>A ENSP00000359655.3:n.6571+53G>A
ENST00000503581.5:c.6571+53G>A ENSP00000424243.1:n.6571+53G>A
NM_001142800.1:c.6571+53G>A NP_001136272.1:n.6571+53G>A
NM_001292009.1:c.6571+53G>A NP_001278938.1:n.6571+53G>A
NM_001142800.2:c.6571+53G>A MANE Select NP_001136272.1:n.6571+53G>A
NM_001292009.2:c.6571+53G>A NP_001278938.1:n.6571+53G>A
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