Canonical Allele Identifier: CA140243935

Gene: EYS

Linked Data

• dbSNP Id: rs992201380
• gnomAD v4: 6-63788138-G-T
• MyVariant Identifiers: chr6:g.64498031G>T (hg19) ; chr6:g.63788138G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788138G>T , CM000668.2:g.63788138G>T	GRCh38
NC_000006.11:g.64498031G>T , CM000668.1:g.64498031G>T	GRCh37
NC_000006.10:g.64555990G>T	NCBI36
NG_023443.1:g.1924088C>A
NG_023443.2:g.1924088C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7690C>A MANE Select	ENSP00000424243.1:p.Pro2564Thr
ENST00000370616.6:c.7690C>A	ENSP00000359650.2:p.Pro2564Thr
ENST00000370618.7:c.7690C>A	ENSP00000359652.4:p.Pro2564Thr
ENST00000370621.7:c.7690C>A	ENSP00000359655.3:p.Pro2564Thr
ENST00000398580.3:c.1004C>A
ENST00000486069.1:n.330C>A
ENST00000503581.5:c.7690C>A	ENSP00000424243.1:p.Pro2564Thr
NM_001142800.1:c.7690C>A	NP_001136272.1:p.Pro2564Thr
NM_001292009.1:c.7690C>A	NP_001278938.1:p.Pro2564Thr
NM_001142800.2:c.7690C>A MANE Select	NP_001136272.1:p.Pro2564Thr
NM_001292009.2:c.7690C>A	NP_001278938.1:p.Pro2564Thr