Canonical Allele Identifier: CA567720389

Gene: EYS

Linked Data

• dbSNP Id: rs1178096975
• gnomAD v2: 6-64940821-A-G
• gnomAD v4: 6-64230928-A-G
• MyVariant Identifiers: chr6:g.64940821A>G (hg19) ; chr6:g.64230928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230928A>G , CM000668.2:g.64230928A>G	GRCh38
NC_000006.11:g.64940821A>G , CM000668.1:g.64940821A>G	GRCh37
NC_000006.10:g.64998780A>G	NCBI36
NG_023443.1:g.1481298T>C
NG_023443.2:g.1481298T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6192-104T>C MANE Select	ENSP00000424243.1:n.6192-104T>C
ENST00000370616.6:c.6192-104T>C	ENSP00000359650.2:n.6192-104T>C
ENST00000370618.7:c.6192-104T>C	ENSP00000359652.4:n.6192-104T>C
ENST00000370621.7:c.6192-104T>C	ENSP00000359655.3:n.6192-104T>C
ENST00000503581.5:c.6192-104T>C	ENSP00000424243.1:n.6192-104T>C
NM_001142800.1:c.6192-104T>C	NP_001136272.1:n.6192-104T>C
NM_001292009.1:c.6192-104T>C	NP_001278938.1:n.6192-104T>C
NM_001142800.2:c.6192-104T>C MANE Select	NP_001136272.1:n.6192-104T>C
NM_001292009.2:c.6192-104T>C	NP_001278938.1:n.6192-104T>C