Canonical Allele Identifier: CA3878094

Gene: EYS

Linked Data

• ClinVar Variation Id: 357748
• ClinVar RCV Id: RCV000337683 ; RCV000917647 ; RCV001074806 ; RCV001277025
• dbSNP Id: rs112609906
• ExAC: 6:66204970 C / G
• gnomAD v2: 6-66204970-C-G
• gnomAD v3: 6-65495077-C-G
• gnomAD v4: 6-65495077-C-G
• COSMIC: COSM1312344 ; COSM1312345
• MyVariant Identifiers: chr6:g.66204970C>G (hg19) ; chr6:g.65495077C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65495077C>G , CM000668.2:g.65495077C>G	GRCh38
NC_000006.11:g.66204970C>G , CM000668.1:g.66204970C>G	GRCh37
NC_000006.10:g.66261691C>G	NCBI36
NG_023443.1:g.217149G>C
NG_023443.2:g.217149G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.334G>C MANE Select	ENSP00000424243.1:p.Val112Leu
ENST00000342421.9:c.334G>C	ENSP00000341818.5:p.Val112Leu
ENST00000370616.6:c.334G>C	ENSP00000359650.2:p.Val112Leu
ENST00000370618.7:c.334G>C	ENSP00000359652.4:p.Val112Leu
ENST00000370621.7:c.334G>C	ENSP00000359655.3:p.Val112Leu
ENST00000393380.6:c.334G>C	ENSP00000377042.2:p.Val112Leu
ENST00000471279.1:c.25G>C	ENSP00000420530.1:p.Val9Leu
ENST00000489873.1:n.861G>C
ENST00000503581.5:c.334G>C	ENSP00000424243.1:p.Val112Leu
NM_001142800.1:c.334G>C	NP_001136272.1:p.Val112Leu
NM_001142801.1:c.334G>C	NP_001136273.1:p.Val112Leu
NM_001292009.1:c.334G>C	NP_001278938.1:p.Val112Leu
NM_198283.1:c.334G>C	NP_938024.1:p.Val112Leu
NM_001142800.2:c.334G>C MANE Select	NP_001136272.1:p.Val112Leu
NM_001142801.2:c.334G>C	NP_001136273.1:p.Val112Leu
NM_001292009.2:c.334G>C	NP_001278938.1:p.Val112Leu
NM_198283.2:c.334G>C	NP_938024.1:p.Val112Leu