Canonical Allele Identifier: CA3504948

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 437984
• ClinVar RCV Id: RCV000595544 ; RCV000504959 ; RCV001073963 ; RCV001376482
• dbSNP Id: rs146591309
• ExAC: 5:149310680 G / A
• gnomAD v2: 5-149310680-G-A
• gnomAD v3: 5-149931117-G-A
• gnomAD v4: 5-149931117-G-A
• MyVariant Identifiers: chr5:g.149310680G>A (hg19) ; chr5:g.149931117G>A (hg38)
• PubMed: PMID:17110911 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149931117G>A , CM000667.2:g.149931117G>A	GRCh38
NC_000005.9:g.149310680G>A , CM000667.1:g.149310680G>A	GRCh37
NC_000005.8:g.149290873G>A	NCBI36
NG_009102.1:g.18677C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.769C>T MANE Select	ENSP00000255266.5:p.Arg257Ter
ENST00000255266.9:c.769C>T	ENSP00000255266.5:p.Arg257Ter
ENST00000508173.5:n.889C>T
ENST00000613228.1:c.526C>T	ENSP00000478060.1:p.Arg176Ter
ENST00000617647.4:c.526C>T	ENSP00000482774.1:p.Arg176Ter
NM_000440.2:c.769C>T	NP_000431.2:p.Arg257Ter
XM_011537648.1:c.769C>T	XP_011535950.1:p.Arg257Ter
XM_011537649.1:c.223C>T	XP_011535951.1:p.Arg75Ter
XM_017009572.2:c.526C>T	XP_016865061.1:p.Arg176Ter
NM_000440.3:c.769C>T MANE Select	NP_000431.2:p.Arg257Ter