Canonical Allele Identifier: CA140266919

Gene: EYS

Linked Data

• dbSNP Id: rs1019438121
• gnomAD v3: 6-63984535-A-C
• gnomAD v4: 6-63984535-A-C
• MyVariant Identifiers: chr6:g.64694428A>C (hg19) ; chr6:g.63984535A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984535A>C , CM000668.2:g.63984535A>C	GRCh38
NC_000006.11:g.64694428A>C , CM000668.1:g.64694428A>C	GRCh37
NC_000006.10:g.64752387A>C	NCBI36
NG_023443.1:g.1727691T>G
NG_023443.2:g.1727691T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6903T>G MANE Select	ENSP00000424243.1:p.Pro2301=
ENST00000370616.6:c.6903T>G	ENSP00000359650.2:p.Pro2301=
ENST00000370618.7:c.6903T>G	ENSP00000359652.4:p.Pro2301=
ENST00000370621.7:c.6903T>G	ENSP00000359655.3:p.Pro2301=
ENST00000398580.3:c.217T>G
ENST00000503581.5:c.6903T>G	ENSP00000424243.1:p.Pro2301=
NM_001142800.1:c.6903T>G	NP_001136272.1:p.Pro2301=
NM_001292009.1:c.6903T>G	NP_001278938.1:p.Pro2301=
XR_001744188.1:n.606+16251A>C
XR_001744189.1:n.129+16251A>C
XR_001744190.1:n.197+16251A>C
XR_001744191.1:n.607-1119A>C
NM_001142800.2:c.6903T>G MANE Select	NP_001136272.1:p.Pro2301=
NM_001292009.2:c.6903T>G	NP_001278938.1:p.Pro2301=