Canonical Allele Identifier: CA3876895

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64066488T>C , CM000668.2:g.64066488T>C	GRCh38
NC_000006.11:g.64776381T>C , CM000668.1:g.64776381T>C	GRCh37
NC_000006.10:g.64834340T>C	NCBI36
NG_023443.1:g.1645738A>G
NG_023443.2:g.1645738A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.6575A>G MANE Select	NP_001136272.1:p.Asn2192Ser
ENST00000503581.6:c.6575A>G MANE Select	ENSP00000424243.1:p.Asn2192Ser
NM_001142800.1:c.6575A>G	NP_001136272.1:p.Asn2192Ser
NM_001292009.1:c.6575A>G	NP_001278938.1:p.Asn2192Ser
NM_001292009.2:c.6575A>G	NP_001278938.1:p.Asn2192Ser
ENST00000370616.6:c.6575A>G	ENSP00000359650.2:p.Asn2192Ser
ENST00000370618.7:c.6575A>G	ENSP00000359652.4:p.Asn2192Ser
ENST00000370621.7:c.6575A>G	ENSP00000359655.3:p.Asn2192Ser
ENST00000503581.5:c.6575A>G	ENSP00000424243.1:p.Asn2192Ser