Canonical Allele Identifier: CA292705

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 138633
• ClinVar RCV Id: RCV000127384 ; RCV000345398 ; RCV001001850 ; RCV001152527
• dbSNP Id: rs142259966
• ExAC: 5:149283238 C / T
• gnomAD v2: 5-149283238-C-T
• gnomAD v3: 5-149903675-C-T
• gnomAD v4: 5-149903675-C-T
• MyVariant Identifiers: chr5:g.149283238C>T (hg19) ; chr5:g.149903675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149903675C>T , CM000667.2:g.149903675C>T	GRCh38
NC_000005.9:g.149283238C>T , CM000667.1:g.149283238C>T	GRCh37
NC_000005.8:g.149263431C>T	NCBI36
NG_009102.1:g.46119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1086G>A MANE Select	ENSP00000255266.5:p.Ala362=
ENST00000255266.9:c.1086G>A	ENSP00000255266.5:p.Ala362=
ENST00000508173.5:n.1206G>A
ENST00000613228.1:c.843G>A	ENSP00000478060.1:p.Ala281=
ENST00000617647.4:c.843G>A	ENSP00000482774.1:p.Ala281=
NM_000440.2:c.1086G>A	NP_000431.2:p.Ala362=
XM_011537648.1:c.1086G>A	XP_011535950.1:p.Ala362=
XM_011537649.1:c.540G>A	XP_011535951.1:p.Ala180=
XM_011537650.1:c.201G>A	XP_011535952.1:p.Ala67=
XM_011537651.1:c.39G>A	XP_011535953.1:p.Ala13=
XM_011537652.1:c.9G>A	XP_011535954.1:p.Ala3=
XM_011537653.1:c.9G>A	XP_011535955.1:p.Ala3=
XM_011537654.1:c.9G>A	XP_011535956.1:p.Ala3=
XM_011537650.2:c.201G>A	XP_011535952.1:p.Ala67=
XM_011537651.2:c.39G>A	XP_011535953.1:p.Ala13=
XM_011537653.2:c.9G>A	XP_011535955.1:p.Ala3=
XM_011537654.2:c.9G>A	XP_011535956.1:p.Ala3=
XM_017009572.2:c.843G>A	XP_016865061.1:p.Ala281=
NM_000440.3:c.1086G>A MANE Select	NP_000431.2:p.Ala362=