Canonical Allele Identifier: CA364391197

Gene: EYS

Linked Data

• gnomAD v4: 6-64230621-A-G
• MyVariant Identifiers: chr6:g.64940514A>G (hg19) ; chr6:g.64230621A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230621A>G , CM000668.2:g.64230621A>G	GRCh38
NC_000006.11:g.64940514A>G , CM000668.1:g.64940514A>G	GRCh37
NC_000006.10:g.64998473A>G	NCBI36
NG_023443.1:g.1481605T>C
NG_023443.2:g.1481605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6395T>C MANE Select	ENSP00000424243.1:p.Leu2132Pro
ENST00000370616.6:c.6395T>C	ENSP00000359650.2:p.Leu2132Pro
ENST00000370618.7:c.6395T>C	ENSP00000359652.4:p.Leu2132Pro
ENST00000370621.7:c.6395T>C	ENSP00000359655.3:p.Leu2132Pro
ENST00000503581.5:c.6395T>C	ENSP00000424243.1:p.Leu2132Pro
NM_001142800.1:c.6395T>C	NP_001136272.1:p.Leu2132Pro
NM_001292009.1:c.6395T>C	NP_001278938.1:p.Leu2132Pro
NM_001142800.2:c.6395T>C MANE Select	NP_001136272.1:p.Leu2132Pro
NM_001292009.2:c.6395T>C	NP_001278938.1:p.Leu2132Pro