Canonical Allele Identifier: CA1633626739
Gene: EYS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230902G= , CM000668.2:g.64230902G= GRCh38
NC_000006.11:g.64940795G= , CM000668.1:g.64940795G= GRCh37
NC_000006.10:g.64998754G= NCBI36
NG_023443.1:g.1481324C=
NG_023443.2:g.1481324C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6192-78C= MANE Select ENSP00000424243.1:n.6192-78C=
ENST00000370616.6:c.6192-78C= ENSP00000359650.2:n.6192-78C=
ENST00000370618.7:c.6192-78C= ENSP00000359652.4:n.6192-78C=
ENST00000370621.7:c.6192-78C= ENSP00000359655.3:n.6192-78C=
ENST00000503581.5:c.6192-78C= ENSP00000424243.1:n.6192-78C=
NM_001142800.1:c.6192-78C= NP_001136272.1:n.6192-78C=
NM_001292009.1:c.6192-78C= NP_001278938.1:n.6192-78C=
NM_001142800.2:c.6192-78C= MANE Select NP_001136272.1:n.6192-78C=
NM_001292009.2:c.6192-78C= NP_001278938.1:n.6192-78C=
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