Canonical Allele Identifier: CA10627438

Gene: EYS

Linked Data

• ClinVar Variation Id: 357752
• ClinVar RCV Id: RCV000392487 ; RCV001513649
• dbSNP Id: rs368932132
• gnomAD v2: 6-66205754-C-T
• gnomAD v3: 6-65495861-C-T
• gnomAD v4: 6-65495861-C-T
• MyVariant Identifiers: chr6:g.66205754C>T (hg19) ; chr6:g.65495861C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65495861C>T , CM000668.2:g.65495861C>T	GRCh38
NC_000006.11:g.66205754C>T , CM000668.1:g.66205754C>T	GRCh37
NC_000006.10:g.66262475C>T	NCBI36
NG_023443.1:g.216365G>A
NG_023443.2:g.216365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.-200G>A MANE Select	ENSP00000424243.1:n.-200G>A
ENST00000342421.9:c.-200G>A	ENSP00000341818.5:n.-200G>A
ENST00000370621.7:c.-200G>A	ENSP00000359655.3:n.-200G>A
ENST00000393380.6:c.-200G>A	ENSP00000377042.2:n.-200G>A
ENST00000471279.1:c.-396G>A	ENSP00000420530.1:n.-396G>A
ENST00000489873.1:n.328G>A
ENST00000503581.5:c.-200G>A	ENSP00000424243.1:n.-200G>A
NM_001142800.1:c.-200G>A	NP_001136272.1:n.-200G>A
NM_001142801.1:c.-200G>A	NP_001136273.1:n.-200G>A
NM_001292009.1:c.-200G>A	NP_001278938.1:n.-200G>A
NM_198283.1:c.-200G>A	NP_938024.1:n.-200G>A
NM_001142800.2:c.-200G>A MANE Select	NP_001136272.1:n.-200G>A
NM_001142801.2:c.-200G>A	NP_001136273.1:n.-200G>A
NM_001292009.2:c.-200G>A	NP_001278938.1:n.-200G>A
NM_198283.2:c.-200G>A	NP_938024.1:n.-200G>A