Canonical Allele Identifier: CA238610

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 193099
• ClinVar RCV Id: RCV000173136 ; RCV000407624 ; RCV001073620 ; RCV001257852 ; RCV001376501
• dbSNP Id: rs141252097
• ExAC: 5:149323933 G / T
• gnomAD v2: 5-149323933-G-T
• gnomAD v3: 5-149944370-G-T
• gnomAD v4: 5-149944370-G-T
• MyVariant Identifiers: chr5:g.149323933G>T (hg19) ; chr5:g.149944370G>T (hg38)
• PubMed: PMID:10393062 ; PMID:18723146 ; PMID:20801516 ; PMID:21151602 ; PMID:25775262

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149944370G>T , CM000667.2:g.149944370G>T	GRCh38
NC_000005.9:g.149323933G>T , CM000667.1:g.149323933G>T	GRCh37
NC_000005.8:g.149304126G>T	NCBI36
NG_009102.1:g.5424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.304C>A MANE Select	ENSP00000255266.5:p.Arg102Ser
ENST00000255266.9:c.304C>A	ENSP00000255266.5:p.Arg102Ser
ENST00000508173.5:n.424C>A
ENST00000613228.1:c.304C>A	ENSP00000478060.1:p.Arg102Ser
ENST00000617647.4:c.304C>A	ENSP00000482774.1:p.Arg102Ser
NM_000440.2:c.304C>A	NP_000431.2:p.Arg102Ser
XM_011537648.1:c.304C>A	XP_011535950.1:p.Arg102Ser
XM_011537649.1:c.-72-9652C>A	XP_011535951.1:n.-72-9652C>A
XM_017009572.2:c.304C>A	XP_016865061.1:p.Arg102Ser
NM_000440.3:c.304C>A MANE Select	NP_000431.2:p.Arg102Ser