Canonical Allele Identifier: CA1089831033
Gene: EYS HGNC NCBI

Linked Data

dbSNP Id: rs1766407380
gnomAD v3: 6-64230876-A-G
gnomAD v4: 6-64230876-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230876A>G , CM000668.2:g.64230876A>G GRCh38
NC_000006.11:g.64940769A>G , CM000668.1:g.64940769A>G GRCh37
NC_000006.10:g.64998728A>G NCBI36
NG_023443.1:g.1481350T>C
NG_023443.2:g.1481350T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6192-52T>C MANE Select ENSP00000424243.1:n.6192-52T>C
ENST00000370616.6:c.6192-52T>C ENSP00000359650.2:n.6192-52T>C
ENST00000370618.7:c.6192-52T>C ENSP00000359652.4:n.6192-52T>C
ENST00000370621.7:c.6192-52T>C ENSP00000359655.3:n.6192-52T>C
ENST00000503581.5:c.6192-52T>C ENSP00000424243.1:n.6192-52T>C
NM_001142800.1:c.6192-52T>C NP_001136272.1:n.6192-52T>C
NM_001292009.1:c.6192-52T>C NP_001278938.1:n.6192-52T>C
NM_001142800.2:c.6192-52T>C MANE Select NP_001136272.1:n.6192-52T>C
NM_001292009.2:c.6192-52T>C NP_001278938.1:n.6192-52T>C
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