Canonical Allele Identifier: CA2578660575
Gene: EYS HGNC NCBI

Linked Data

gnomAD v4: 6-65057553-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.65057553G>T , CM000668.2:g.65057553G>T GRCh38
NC_000006.11:g.65767446G>T , CM000668.1:g.65767446G>T GRCh37
NC_000006.10:g.65824167G>T NCBI36
NG_023443.1:g.654673C>A
NG_023443.2:g.654673C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.2137+61C>A MANE Select ENSP00000424243.1:n.2137+61C>A
ENST00000370616.6:c.2137+61C>A ENSP00000359650.2:n.2137+61C>A
ENST00000370618.7:c.2137+61C>A ENSP00000359652.4:n.2137+61C>A
ENST00000370621.7:c.2137+61C>A ENSP00000359655.3:n.2137+61C>A
ENST00000503581.5:c.2137+61C>A ENSP00000424243.1:n.2137+61C>A
NM_001142800.1:c.2137+61C>A NP_001136272.1:n.2137+61C>A
NM_001292009.1:c.2137+61C>A NP_001278938.1:n.2137+61C>A
NM_001142800.2:c.2137+61C>A MANE Select NP_001136272.1:n.2137+61C>A
NM_001292009.2:c.2137+61C>A NP_001278938.1:n.2137+61C>A
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