Canonical Allele Identifier: CA234508

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 167431
• ClinVar RCV Id: RCV000153658 ; RCV000292173 ; RCV001376415 ; RCV003416002
• dbSNP Id: rs139444207
• ExAC: 5:149274769 G / T
• gnomAD v2: 5-149274769-G-T
• gnomAD v3: 5-149895206-G-T
• gnomAD v4: 5-149895206-G-T
• MyVariant Identifiers: chr5:g.149274769G>T (hg19) ; chr5:g.149895206G>T (hg38)
• PubMed: PMID:10393062 ; PMID:21151602 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895206G>T , CM000667.2:g.149895206G>T	GRCh38
NC_000005.9:g.149274769G>T , CM000667.1:g.149274769G>T	GRCh37
NC_000005.8:g.149254962G>T	NCBI36
NG_009102.1:g.54588C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1705C>A MANE Select	ENSP00000255266.5:p.Gln569Lys
ENST00000255266.9:c.1705C>A	ENSP00000255266.5:p.Gln569Lys
ENST00000508173.5:n.1889C>A
ENST00000613228.1:c.1462C>A	ENSP00000478060.1:p.Gln488Lys
ENST00000617647.4:c.1462C>A	ENSP00000482774.1:p.Gln488Lys
NM_000440.2:c.1705C>A	NP_000431.2:p.Gln569Lys
XM_011537648.1:c.1705C>A	XP_011535950.1:p.Gln569Lys
XM_011537649.1:c.1159C>A	XP_011535951.1:p.Gln387Lys
XM_011537650.1:c.820C>A	XP_011535952.1:p.Gln274Lys
XM_011537651.1:c.658C>A	XP_011535953.1:p.Gln220Lys
XM_011537652.1:c.628C>A	XP_011535954.1:p.Gln210Lys
XM_011537653.1:c.628C>A	XP_011535955.1:p.Gln210Lys
XM_011537654.1:c.628C>A	XP_011535956.1:p.Gln210Lys
XM_011537650.2:c.820C>A	XP_011535952.1:p.Gln274Lys
XM_011537651.2:c.658C>A	XP_011535953.1:p.Gln220Lys
XM_011537653.2:c.628C>A	XP_011535955.1:p.Gln210Lys
XM_011537654.2:c.628C>A	XP_011535956.1:p.Gln210Lys
XM_017009572.2:c.1462C>A	XP_016865061.1:p.Gln488Lys
NM_000440.3:c.1705C>A MANE Select	NP_000431.2:p.Gln569Lys