Canonical Allele Identifier: CA364385854

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63789144C>G , CM000668.2:g.63789144C>G	GRCh38
NC_000006.11:g.64499037C>G , CM000668.1:g.64499037C>G	GRCh37
NC_000006.10:g.64556996C>G	NCBI36
NG_023443.1:g.1923082G>C
NG_023443.2:g.1923082G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.7492G>C MANE Select	NP_001136272.1:p.Ala2498Pro
ENST00000503581.6:c.7492G>C MANE Select	ENSP00000424243.1:p.Ala2498Pro
NM_001142800.1:c.7492G>C	NP_001136272.1:p.Ala2498Pro
NM_001292009.1:c.7492G>C	NP_001278938.1:p.Ala2498Pro
NM_001292009.2:c.7492G>C	NP_001278938.1:p.Ala2498Pro
ENST00000370616.6:c.7492G>C	ENSP00000359650.2:p.Ala2498Pro
ENST00000370618.7:c.7492G>C	ENSP00000359652.4:p.Ala2498Pro
ENST00000370621.7:c.7492G>C	ENSP00000359655.3:p.Ala2498Pro
ENST00000398580.3:c.806G>C
ENST00000486069.1:n.132G>C
ENST00000503581.5:c.7492G>C	ENSP00000424243.1:p.Ala2498Pro