Canonical Allele Identifier: CA2679301666
Gene: EYS HGNC NCBI

Linked Data

gnomAD v4: 6-64081803-C-G
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Genomic Alleles

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

Transcript Alleles

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