Canonical Allele Identifier: CA3876934

Gene: EYS

Linked Data

• ClinVar Variation Id: 961276
• ClinVar RCV Id: RCV001234946 ; RCV001834035
• dbSNP Id: rs570020451
• ExAC: 6:64940718 C / A
• gnomAD v2: 6-64940718-C-A
• gnomAD v3: 6-64230825-C-A
• gnomAD v4: 6-64230825-C-A
• MyVariant Identifiers: chr6:g.64940718C>A (hg19) ; chr6:g.64230825C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230825C>A , CM000668.2:g.64230825C>A	GRCh38
NC_000006.11:g.64940718C>A , CM000668.1:g.64940718C>A	GRCh37
NC_000006.10:g.64998677C>A	NCBI36
NG_023443.1:g.1481401G>T
NG_023443.2:g.1481401G>T

Transcript Alleles

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