Canonical Allele Identifier: CA256727

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 13111
• ClinVar RCV Id: RCV000013990
• dbSNP Id: rs121918577
• gnomAD v4: 5-149907345-G-T
• MyVariant Identifiers: chr5:g.149286908G>T (hg19) ; chr5:g.149907345G>T (hg38)
• PubMed: PMID:7493036 ; PMID:29472945

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149907345G>T , CM000667.2:g.149907345G>T	GRCh38
NC_000005.9:g.149286908G>T , CM000667.1:g.149286908G>T	GRCh37
NC_000005.8:g.149267101G>T	NCBI36
NG_009102.1:g.42449C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1032C>A MANE Select	ENSP00000255266.5:p.Ser344Arg
ENST00000255266.9:c.1032C>A	ENSP00000255266.5:p.Ser344Arg
ENST00000508173.5:n.1152C>A
ENST00000613228.1:c.789C>A	ENSP00000478060.1:p.Ser263Arg
ENST00000617647.4:c.789C>A	ENSP00000482774.1:p.Ser263Arg
NM_000440.2:c.1032C>A	NP_000431.2:p.Ser344Arg
XM_011537648.1:c.1032C>A	XP_011535950.1:p.Ser344Arg
XM_011537649.1:c.486C>A	XP_011535951.1:p.Ser162Arg
XM_011537650.1:c.147C>A	XP_011535952.1:p.Ser49Arg
XM_011537652.1:c.-212C>A	XP_011535954.1:n.-212C>A
XM_011537650.2:c.147C>A	XP_011535952.1:p.Ser49Arg
XM_017009572.2:c.789C>A	XP_016865061.1:p.Ser263Arg
NM_000440.3:c.1032C>A MANE Select	NP_000431.2:p.Ser344Arg