Canonical Allele Identifier: CA2679288027

Gene: EYS

Linked Data

• gnomAD v4: 6-65057562-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65057562G>C , CM000668.2:g.65057562G>C	GRCh38
NC_000006.11:g.65767455G>C , CM000668.1:g.65767455G>C	GRCh37
NC_000006.10:g.65824176G>C	NCBI36
NG_023443.1:g.654664C>G
NG_023443.2:g.654664C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.2137+52C>G MANE Select	ENSP00000424243.1:n.2137+52C>G
ENST00000370616.6:c.2137+52C>G	ENSP00000359650.2:n.2137+52C>G
ENST00000370618.7:c.2137+52C>G	ENSP00000359652.4:n.2137+52C>G
ENST00000370621.7:c.2137+52C>G	ENSP00000359655.3:n.2137+52C>G
ENST00000503581.5:c.2137+52C>G	ENSP00000424243.1:n.2137+52C>G
NM_001142800.1:c.2137+52C>G	NP_001136272.1:n.2137+52C>G
NM_001292009.1:c.2137+52C>G	NP_001278938.1:n.2137+52C>G
NM_001142800.2:c.2137+52C>G MANE Select	NP_001136272.1:n.2137+52C>G
NM_001292009.2:c.2137+52C>G	NP_001278938.1:n.2137+52C>G