Canonical Allele Identifier: CA3877244
Gene: EYS HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.64886866G>C
GRCh37 chr6:g.65596759G>C
gnomAD v2:
6:65596759 G / C
gnomAD v3:
6:64886866 G / C
gnomAD v4:
chr6-64886866-G-C
Joint Max Group AF 0.00014646 (AFR)
Genomes Max Group AF 0.00011266 (AFR)
Exomes Max Group AF 0.00012235 (AFR)
dbSNP:
7743515
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64886866G>C , CM000668.2:g.64886866G>C GRCh38
NC_000006.11:g.65596759G>C , CM000668.1:g.65596759G>C GRCh37
NC_000006.10:g.65653480G>C NCBI36
NG_023443.1:g.825360C>G
NG_023443.2:g.825360C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.2847-24C>G MANE Select ENSP00000424243.1:n.2847-24C>G
ENST00000370616.6:c.2847-24C>G ENSP00000359650.2:n.2847-24C>G
ENST00000370618.7:c.2847-24C>G ENSP00000359652.4:n.2847-24C>G
ENST00000370621.7:c.2847-24C>G ENSP00000359655.3:n.2847-24C>G
ENST00000503581.5:c.2847-24C>G ENSP00000424243.1:n.2847-24C>G
NM_001142800.1:c.2847-24C>G NP_001136272.1:n.2847-24C>G
NM_001292009.1:c.2847-24C>G NP_001278938.1:n.2847-24C>G
NM_001142800.2:c.2847-24C>G MANE Select NP_001136272.1:n.2847-24C>G
NM_001292009.2:c.2847-24C>G NP_001278938.1:n.2847-24C>G
Search 100 bp 5'
Search 100 bp 3'