Canonical Allele Identifier: CA364391170

Gene: EYS

Linked Data

• ClinVar Variation Id: 1011585
• ClinVar RCV Id: RCV001309409
• dbSNP Id: rs1252532483
• gnomAD v3: 6-64230609-C-G
• gnomAD v4: 6-64230609-C-G
• MyVariant Identifiers: chr6:g.64940502C>G (hg19) ; chr6:g.64230609C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230609C>G , CM000668.2:g.64230609C>G	GRCh38
NC_000006.11:g.64940502C>G , CM000668.1:g.64940502C>G	GRCh37
NC_000006.10:g.64998461C>G	NCBI36
NG_023443.1:g.1481617G>C
NG_023443.2:g.1481617G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.6407G>C MANE Select	ENSP00000424243.1:p.Gly2136Ala
ENST00000370616.6:c.6407G>C	ENSP00000359650.2:p.Gly2136Ala
ENST00000370618.7:c.6407G>C	ENSP00000359652.4:p.Gly2136Ala
ENST00000370621.7:c.6407G>C	ENSP00000359655.3:p.Gly2136Ala
ENST00000503581.5:c.6407G>C	ENSP00000424243.1:p.Gly2136Ala
NM_001142800.1:c.6407G>C	NP_001136272.1:p.Gly2136Ala
NM_001292009.1:c.6407G>C	NP_001278938.1:p.Gly2136Ala
NM_001142800.2:c.6407G>C MANE Select	NP_001136272.1:p.Gly2136Ala
NM_001292009.2:c.6407G>C	NP_001278938.1:p.Gly2136Ala