Canonical Allele Identifier: CA3504592

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 866352
• ClinVar RCV Id: RCV001226626 ; RCV001074263 ; RCV002489721
• dbSNP Id: rs776918069
• ExAC: 5:149274785 G / T
• gnomAD v2: 5-149274785-G-T
• gnomAD v3: 5-149895222-G-T
• gnomAD v4: 5-149895222-G-T
• MyVariant Identifiers: chr5:g.149274785G>T (hg19) ; chr5:g.149895222G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895222G>T , CM000667.2:g.149895222G>T	GRCh38
NC_000005.9:g.149274785G>T , CM000667.1:g.149274785G>T	GRCh37
NC_000005.8:g.149254978G>T	NCBI36
NG_009102.1:g.54572C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1689C>A MANE Select	ENSP00000255266.5:p.His563Gln
ENST00000255266.9:c.1689C>A	ENSP00000255266.5:p.His563Gln
ENST00000508173.5:n.1873C>A
ENST00000613228.1:c.1446C>A	ENSP00000478060.1:p.His482Gln
ENST00000617647.4:c.1446C>A	ENSP00000482774.1:p.His482Gln
NM_000440.2:c.1689C>A	NP_000431.2:p.His563Gln
XM_011537648.1:c.1689C>A	XP_011535950.1:p.His563Gln
XM_011537649.1:c.1143C>A	XP_011535951.1:p.His381Gln
XM_011537650.1:c.804C>A	XP_011535952.1:p.His268Gln
XM_011537651.1:c.642C>A	XP_011535953.1:p.His214Gln
XM_011537652.1:c.612C>A	XP_011535954.1:p.His204Gln
XM_011537653.1:c.612C>A	XP_011535955.1:p.His204Gln
XM_011537654.1:c.612C>A	XP_011535956.1:p.His204Gln
XM_011537650.2:c.804C>A	XP_011535952.1:p.His268Gln
XM_011537651.2:c.642C>A	XP_011535953.1:p.His214Gln
XM_011537653.2:c.612C>A	XP_011535955.1:p.His204Gln
XM_011537654.2:c.612C>A	XP_011535956.1:p.His204Gln
XM_017009572.2:c.1446C>A	XP_016865061.1:p.His482Gln
NM_000440.3:c.1689C>A MANE Select	NP_000431.2:p.His563Gln