Canonical Allele Identifier: CA2679288024

Gene: EYS

Linked Data

• gnomAD v4: 6-65057552-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65057552A>C , CM000668.2:g.65057552A>C	GRCh38
NC_000006.11:g.65767445A>C , CM000668.1:g.65767445A>C	GRCh37
NC_000006.10:g.65824166A>C	NCBI36
NG_023443.1:g.654674T>G
NG_023443.2:g.654674T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.2137+62T>G MANE Select	ENSP00000424243.1:n.2137+62T>G
ENST00000370616.6:c.2137+62T>G	ENSP00000359650.2:n.2137+62T>G
ENST00000370618.7:c.2137+62T>G	ENSP00000359652.4:n.2137+62T>G
ENST00000370621.7:c.2137+62T>G	ENSP00000359655.3:n.2137+62T>G
ENST00000503581.5:c.2137+62T>G	ENSP00000424243.1:n.2137+62T>G
NM_001142800.1:c.2137+62T>G	NP_001136272.1:n.2137+62T>G
NM_001292009.1:c.2137+62T>G	NP_001278938.1:n.2137+62T>G
NM_001142800.2:c.2137+62T>G MANE Select	NP_001136272.1:n.2137+62T>G
NM_001292009.2:c.2137+62T>G	NP_001278938.1:n.2137+62T>G