Canonical Allele Identifier: CA270049

Gene: EYS

Linked Data

• ClinVar Variation Id: 143100
• ClinVar RCV Id: RCV000132621
• dbSNP Id: rs527236077
• MyVariant Identifiers: chr6:g.66063465T>A (hg19) ; chr6:g.65353572T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65353572T>A , CM000668.2:g.65353572T>A	GRCh38
NC_000006.11:g.66063465T>A , CM000668.1:g.66063465T>A	GRCh37
NC_000006.10:g.66120186T>A	NCBI36
NG_023443.1:g.358654A>T
NG_023443.2:g.358654A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.1345A>T MANE Select	ENSP00000424243.1:p.Lys449Ter
ENST00000342421.9:c.1345A>T	ENSP00000341818.5:p.Lys449Ter
ENST00000370616.6:c.1345A>T	ENSP00000359650.2:p.Lys449Ter
ENST00000370618.7:c.1345A>T	ENSP00000359652.4:p.Lys449Ter
ENST00000370621.7:c.1345A>T	ENSP00000359655.3:p.Lys449Ter
ENST00000393380.6:c.1345A>T	ENSP00000377042.2:p.Lys449Ter
ENST00000503581.5:c.1345A>T	ENSP00000424243.1:p.Lys449Ter
NM_001142800.1:c.1345A>T	NP_001136272.1:p.Lys449Ter
NM_001142801.1:c.1345A>T	NP_001136273.1:p.Lys449Ter
NM_001292009.1:c.1345A>T	NP_001278938.1:p.Lys449Ter
NM_198283.1:c.1345A>T	NP_938024.1:p.Lys449Ter
NM_001142800.2:c.1345A>T MANE Select	NP_001136272.1:p.Lys449Ter
NM_001142801.2:c.1345A>T	NP_001136273.1:p.Lys449Ter
NM_001292009.2:c.1345A>T	NP_001278938.1:p.Lys449Ter
NM_198283.2:c.1345A>T	NP_938024.1:p.Lys449Ter