Canonical Allele Identifier: CA2679283490

Gene: EYS

Linked Data

• gnomAD v4: 6-64230863-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230863A>G , CM000668.2:g.64230863A>G	GRCh38
NC_000006.11:g.64940756A>G , CM000668.1:g.64940756A>G	GRCh37
NC_000006.10:g.64998715A>G	NCBI36
NG_023443.1:g.1481363T>C
NG_023443.2:g.1481363T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6192-39T>C MANE Select	ENSP00000424243.1:n.6192-39T>C
ENST00000370616.6:c.6192-39T>C	ENSP00000359650.2:n.6192-39T>C
ENST00000370618.7:c.6192-39T>C	ENSP00000359652.4:n.6192-39T>C
ENST00000370621.7:c.6192-39T>C	ENSP00000359655.3:n.6192-39T>C
ENST00000503581.5:c.6192-39T>C	ENSP00000424243.1:n.6192-39T>C
NM_001142800.1:c.6192-39T>C	NP_001136272.1:n.6192-39T>C
NM_001292009.1:c.6192-39T>C	NP_001278938.1:n.6192-39T>C
NM_001142800.2:c.6192-39T>C MANE Select	NP_001136272.1:n.6192-39T>C
NM_001292009.2:c.6192-39T>C	NP_001278938.1:n.6192-39T>C