Canonical Allele Identifier: CA1634036050

Gene: EYS

Linked Data

• dbSNP Id: rs1773451826

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65057535A>G , CM000668.2:g.65057535A>G	GRCh38
NC_000006.11:g.65767428A>G , CM000668.1:g.65767428A>G	GRCh37
NC_000006.10:g.65824149A>G	NCBI36
NG_023443.1:g.654691T>C
NG_023443.2:g.654691T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.2137+79T>C MANE Select	ENSP00000424243.1:n.2137+79T>C
ENST00000370616.6:c.2137+79T>C	ENSP00000359650.2:n.2137+79T>C
ENST00000370618.7:c.2137+79T>C	ENSP00000359652.4:n.2137+79T>C
ENST00000370621.7:c.2137+79T>C	ENSP00000359655.3:n.2137+79T>C
ENST00000503581.5:c.2137+79T>C	ENSP00000424243.1:n.2137+79T>C
NM_001142800.1:c.2137+79T>C	NP_001136272.1:n.2137+79T>C
NM_001292009.1:c.2137+79T>C	NP_001278938.1:n.2137+79T>C
NM_001142800.2:c.2137+79T>C MANE Select	NP_001136272.1:n.2137+79T>C
NM_001292009.2:c.2137+79T>C	NP_001278938.1:n.2137+79T>C