Canonical Allele Identifier: CA3877324
Gene: EYS HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.65057613C>T
GRCh37 chr6:g.65767506C>T
gnomAD v2:
6:65767506 C / T
gnomAD v3:
6:65057613 C / T
gnomAD v4:
chr6-65057613-C-T
Joint Max Group AF 0.0029209 (MID)
Genomes Max Group AF 0.00015879 (NFE)
Exomes Max Group AF 0.0027784 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.65057613C>T , CM000668.2:g.65057613C>T GRCh38
NC_000006.11:g.65767506C>T , CM000668.1:g.65767506C>T GRCh37
NC_000006.10:g.65824227C>T NCBI36
NG_023443.1:g.654613G>A
NG_023443.2:g.654613G>A

Transcript Alleles

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