Canonical Allele Identifier: CA364391465
Gene: EYS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230744G>T , CM000668.2:g.64230744G>T GRCh38
NC_000006.11:g.64940637G>T , CM000668.1:g.64940637G>T GRCh37
NC_000006.10:g.64998596G>T NCBI36
NG_023443.1:g.1481482C>A
NG_023443.2:g.1481482C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6272C>A MANE Select ENSP00000424243.1:p.Thr2091Asn
ENST00000370616.6:c.6272C>A ENSP00000359650.2:p.Thr2091Asn
ENST00000370618.7:c.6272C>A ENSP00000359652.4:p.Thr2091Asn
ENST00000370621.7:c.6272C>A ENSP00000359655.3:p.Thr2091Asn
ENST00000503581.5:c.6272C>A ENSP00000424243.1:p.Thr2091Asn
NM_001142800.1:c.6272C>A NP_001136272.1:p.Thr2091Asn
NM_001292009.1:c.6272C>A NP_001278938.1:p.Thr2091Asn
NM_001142800.2:c.6272C>A MANE Select NP_001136272.1:p.Thr2091Asn
NM_001292009.2:c.6272C>A NP_001278938.1:p.Thr2091Asn