Canonical Allele Identifier: CA251491

Gene: EYS

Linked Data

• ClinVar Variation Id: 537
• ClinVar RCV Id: RCV000000567 ; RCV001387157
• dbSNP Id: rs137853189
• gnomAD v3: 6-64436244-C-A
• gnomAD v4: 6-64436244-C-A
• MyVariant Identifiers: chr6:g.65146137C>A (hg19) ; chr6:g.64436244C>A (hg38)
• PubMed: PMID:18836446

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64436244C>A , CM000668.2:g.64436244C>A	GRCh38
NC_000006.11:g.65146137C>A , CM000668.1:g.65146137C>A	GRCh37
NC_000006.10:g.65202858C>A	NCBI36
NG_023443.1:g.1275982G>T
NG_023443.2:g.1275982G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.5857G>T MANE Select	ENSP00000424243.1:p.Glu1953Ter
ENST00000370616.6:c.5857G>T	ENSP00000359650.2:p.Glu1953Ter
ENST00000370618.7:c.5857G>T	ENSP00000359652.4:p.Glu1953Ter
ENST00000370621.7:c.5857G>T	ENSP00000359655.3:p.Glu1953Ter
ENST00000503581.5:c.5857G>T	ENSP00000424243.1:p.Glu1953Ter
NM_001142800.1:c.5857G>T	NP_001136272.1:p.Glu1953Ter
NM_001292009.1:c.5857G>T	NP_001278938.1:p.Glu1953Ter
NM_001142800.2:c.5857G>T MANE Select	NP_001136272.1:p.Glu1953Ter
NM_001292009.2:c.5857G>T	NP_001278938.1:p.Glu1953Ter