Canonical Allele Identifier: CA2679287999

Gene: EYS

Linked Data

• gnomAD v4: 6-65057520-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65057520G>T , CM000668.2:g.65057520G>T	GRCh38
NC_000006.11:g.65767413G>T , CM000668.1:g.65767413G>T	GRCh37
NC_000006.10:g.65824134G>T	NCBI36
NG_023443.1:g.654706C>A
NG_023443.2:g.654706C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.2137+94C>A MANE Select	ENSP00000424243.1:n.2137+94C>A
ENST00000370616.6:c.2137+94C>A	ENSP00000359650.2:n.2137+94C>A
ENST00000370618.7:c.2137+94C>A	ENSP00000359652.4:n.2137+94C>A
ENST00000370621.7:c.2137+94C>A	ENSP00000359655.3:n.2137+94C>A
ENST00000503581.5:c.2137+94C>A	ENSP00000424243.1:n.2137+94C>A
NM_001142800.1:c.2137+94C>A	NP_001136272.1:n.2137+94C>A
NM_001292009.1:c.2137+94C>A	NP_001278938.1:n.2137+94C>A
NM_001142800.2:c.2137+94C>A MANE Select	NP_001136272.1:n.2137+94C>A
NM_001292009.2:c.2137+94C>A	NP_001278938.1:n.2137+94C>A