Canonical Allele Identifier: CA275023

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 194473
• ClinVar RCV Id: RCV000174847 ; RCV001376192 ; RCV001199499
• dbSNP Id: rs794727139
• gnomAD v2: 5-149264342-C-T
• gnomAD v4: 5-149884779-C-T
• MyVariant Identifiers: chr5:g.149264342C>T (hg19) ; chr5:g.149884779C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149884779C>T , CM000667.2:g.149884779C>T	GRCh38
NC_000005.9:g.149264342C>T , CM000667.1:g.149264342C>T	GRCh37
NC_000005.8:g.149244535C>T	NCBI36
NG_009102.1:g.65015G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1926+1G>A MANE Select	ENSP00000255266.5:n.1926+1G>A
ENST00000255266.9:c.1926+1G>A	ENSP00000255266.5:n.1926+1G>A
ENST00000508173.5:n.2110+1G>A
ENST00000613228.1:c.1683+1G>A	ENSP00000478060.1:n.1683+1G>A
ENST00000617647.4:c.1683+1G>A	ENSP00000482774.1:n.1683+1G>A
NM_000440.2:c.1926+1G>A	NP_000431.2:n.1926+1G>A
XM_011537648.1:c.1926+1G>A	XP_011535950.1:n.1926+1G>A
XM_011537649.1:c.1380+1G>A	XP_011535951.1:n.1380+1G>A
XM_011537650.1:c.1041+1G>A	XP_011535952.1:n.1041+1G>A
XM_011537651.1:c.879+1G>A	XP_011535953.1:n.879+1G>A
XM_011537652.1:c.849+1G>A	XP_011535954.1:n.849+1G>A
XM_011537653.1:c.849+1G>A	XP_011535955.1:n.849+1G>A
XM_011537654.1:c.849+1G>A	XP_011535956.1:n.849+1G>A
XM_011537650.2:c.1041+1G>A	XP_011535952.1:n.1041+1G>A
XM_011537651.2:c.879+1G>A	XP_011535953.1:n.879+1G>A
XM_011537653.2:c.849+1G>A	XP_011535955.1:n.849+1G>A
XM_011537654.2:c.849+1G>A	XP_011535956.1:n.849+1G>A
XM_017009572.2:c.1683+1G>A	XP_016865061.1:n.1683+1G>A
NM_000440.3:c.1926+1G>A MANE Select	NP_000431.2:n.1926+1G>A