Canonical Allele Identifier: CA3877269
Gene: EYS HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.64912512G>A
GRCh37 chr6:g.65622405G>A
gnomAD v2:
6:65622405 G / A
gnomAD v3:
6:64912512 G / A
gnomAD v4:
chr6-64912512-G-A
Joint Max Group AF 0.00430363 (NFE)
Genomes Max Group AF 0.0044812 (NFE)
Exomes Max Group AF 0.00426897 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64912512G>A , CM000668.2:g.64912512G>A GRCh38
NC_000006.11:g.65622405G>A , CM000668.1:g.65622405G>A GRCh37
NC_000006.10:g.65679126G>A NCBI36
NG_023443.1:g.799714C>T
NG_023443.2:g.799714C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.2613C>T MANE Select ENSP00000424243.1:p.Asp871=
ENST00000370616.6:c.2613C>T ENSP00000359650.2:p.Asp871=
ENST00000370618.7:c.2613C>T ENSP00000359652.4:p.Asp871=
ENST00000370621.7:c.2613C>T ENSP00000359655.3:p.Asp871=
ENST00000503581.5:c.2613C>T ENSP00000424243.1:p.Asp871=
NM_001142800.1:c.2613C>T NP_001136272.1:p.Asp871=
NM_001292009.1:c.2613C>T NP_001278938.1:p.Asp871=
NM_001142800.2:c.2613C>T MANE Select NP_001136272.1:p.Asp871=
NM_001292009.2:c.2613C>T NP_001278938.1:p.Asp871=
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