Canonical Allele Identifier: CA259675

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 29874
• ClinVar RCV Id: RCV000022755 ; RCV001074616 ; RCV000797198
• dbSNP Id: rs121909835
• ExAC: 5:149263074 C / T
• gnomAD v2: 5-149263074-C-T
• gnomAD v3: 5-149883511-C-T
• gnomAD v4: 5-149883511-C-T
• MyVariant Identifiers: chr5:g.149263074C>T (hg19) ; chr5:g.149883511C>T (hg38)
• PubMed: PMID:18849587 ; PMID:21039428 ; PMID:29472945

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149883511C>T , CM000667.2:g.149883511C>T	GRCh38
NC_000005.9:g.149263074C>T , CM000667.1:g.149263074C>T	GRCh37
NC_000005.8:g.149243267C>T	NCBI36
NG_009102.1:g.66283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.2053G>A MANE Select	ENSP00000255266.5:p.Val685Met
ENST00000255266.9:c.2053G>A	ENSP00000255266.5:p.Val685Met
ENST00000508173.5:n.2237G>A
ENST00000613228.1:c.1810G>A	ENSP00000478060.1:p.Val604Met
ENST00000617647.4:c.1810G>A	ENSP00000482774.1:p.Val604Met
NM_000440.2:c.2053G>A	NP_000431.2:p.Val685Met
XM_011537648.1:c.2053G>A	XP_011535950.1:p.Val685Met
XM_011537649.1:c.1507G>A	XP_011535951.1:p.Val503Met
XM_011537650.1:c.1168G>A	XP_011535952.1:p.Val390Met
XM_011537651.1:c.1006G>A	XP_011535953.1:p.Val336Met
XM_011537652.1:c.976G>A	XP_011535954.1:p.Val326Met
XM_011537653.1:c.976G>A	XP_011535955.1:p.Val326Met
XM_011537654.1:c.976G>A	XP_011535956.1:p.Val326Met
XM_011537650.2:c.1168G>A	XP_011535952.1:p.Val390Met
XM_011537651.2:c.1006G>A	XP_011535953.1:p.Val336Met
XM_011537653.2:c.976G>A	XP_011535955.1:p.Val326Met
XM_011537654.2:c.976G>A	XP_011535956.1:p.Val326Met
XM_017009572.2:c.1810G>A	XP_016865061.1:p.Val604Met
NM_000440.3:c.2053G>A MANE Select	NP_000431.2:p.Val685Met