Canonical Allele Identifier: CA270065

Gene: EYS PHF3

Linked Data

• ClinVar Variation Id: 143112
• ClinVar RCV Id: RCV000132633 ; RCV000678571 ; RCV001059640 ; RCV001074415
• dbSNP Id: rs527236066
• gnomAD v2: 6-64472506-C-T
• gnomAD v3: 6-63762613-C-T
• gnomAD v4: 6-63762613-C-T
• MyVariant Identifiers: chr6:g.64472506C>T (hg19) ; chr6:g.63762613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63762613C>T , CM000668.2:g.63762613C>T	GRCh38
NC_000006.11:g.64472506C>T , CM000668.1:g.64472506C>T	GRCh37
NC_000006.10:g.64530465C>T	NCBI36
NG_023443.1:g.1949613G>A
NG_023443.2:g.1949613G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7919G>A (EYS) MANE Select	ENSP00000424243.1:p.Trp2640Ter
ENST00000370616.6:c.7919G>A (EYS)	ENSP00000359650.2:p.Trp2640Ter
ENST00000370618.7:c.7919G>A (EYS)	ENSP00000359652.4:p.Trp2640Ter
ENST00000370621.7:c.7919G>A (EYS)	ENSP00000359655.3:p.Trp2640Ter
ENST00000398580.3:c.1233G>A (EYS)
ENST00000503581.5:c.7919G>A (EYS)	ENSP00000424243.1:p.Trp2640Ter
ENST00000505138.1:c.364-15453C>T (PHF3)
NM_001142800.1:c.7919G>A (EYS)	NP_001136272.1:p.Trp2640Ter
NM_001292009.1:c.7919G>A (EYS)	NP_001278938.1:p.Trp2640Ter
NM_001142800.2:c.7919G>A (EYS) MANE Select	NP_001136272.1:p.Trp2640Ter
NM_001292009.2:c.7919G>A (EYS)	NP_001278938.1:p.Trp2640Ter