Canonical Allele Identifier: CA364659378

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65295904A>T , CM000668.2:g.65295904A>T	GRCh38
NC_000006.11:g.66005797A>T , CM000668.1:g.66005797A>T	GRCh37
NC_000006.10:g.66062518A>T	NCBI36
NG_023443.1:g.416322T>A
NG_023443.2:g.416322T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.1982T>A MANE Select	NP_001136272.1:p.Leu661Ter
ENST00000503581.6:c.1982T>A MANE Select	ENSP00000424243.1:p.Leu661Ter
NM_001142800.1:c.1982T>A	NP_001136272.1:p.Leu661Ter
NM_001292009.1:c.1982T>A	NP_001278938.1:p.Leu661Ter
NM_001292009.2:c.1982T>A	NP_001278938.1:p.Leu661Ter
ENST00000370615.3:n.420T>A
ENST00000370616.6:c.1982T>A	ENSP00000359650.2:p.Leu661Ter
ENST00000370618.7:c.1982T>A	ENSP00000359652.4:p.Leu661Ter
ENST00000370621.7:c.1982T>A	ENSP00000359655.3:p.Leu661Ter
ENST00000447127.1:n.438T>A
ENST00000503581.5:c.1982T>A	ENSP00000424243.1:p.Leu661Ter