Canonical Allele Identifier: CA10624529
Gene: EYS HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.65639852G>C
GRCh37 chr6:g.66349745G>C
gnomAD v2:
6:66349745 G / C
gnomAD v3:
6:65639852 G / C
gnomAD v4:
chr6-65639852-G-C
Joint Max Group AF 0.01623102 (AFR)
Genomes Max Group AF 0.01623102 (AFR)
ClinVar RCV:
RCV000270099
RCV001520329
ClinVar Variation:
357758
dbSNP:
137924872
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.65639852G>C , CM000668.2:g.65639852G>C GRCh38
NC_000006.11:g.66349745G>C , CM000668.1:g.66349745G>C GRCh37
NC_000006.10:g.66406466G>C NCBI36
NG_023443.1:g.72374C>G
NG_023443.2:g.72374C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.-407C>G MANE Select ENSP00000424243.1:n.-407C>G
ENST00000370621.7:c.-407C>G ENSP00000359655.3:n.-407C>G
ENST00000393380.6:c.-407C>G ENSP00000377042.2:n.-407C>G
ENST00000489873.1:n.121C>G
ENST00000503581.5:c.-407C>G ENSP00000424243.1:n.-407C>G
NM_001142800.1:c.-407C>G NP_001136272.1:n.-407C>G
NM_001142801.1:c.-407C>G NP_001136273.1:n.-407C>G
NM_001292009.1:c.-407C>G NP_001278938.1:n.-407C>G
NM_001142800.2:c.-407C>G MANE Select NP_001136272.1:n.-407C>G
NM_001142801.2:c.-407C>G NP_001136273.1:n.-407C>G
NM_001292009.2:c.-407C>G NP_001278938.1:n.-407C>G
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