Canonical Allele Identifier: CA3877324

Gene: EYS

Linked Data

• ClinVar Variation Id: 421249
• ClinVar RCV Id: RCV000484533 ; RCV000763559 ; RCV000779518
• dbSNP Id: rs199740930
• ExAC: 6:65767506 C / T
• gnomAD: 6:65767506 C / T
• MyVariant Identifiers: chr6:g.65767506C>T (hg19) ; chr6:g.65057613C>T (hg38)

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