Canonical Allele Identifier: CA361695089

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 1065736
• ClinVar RCV Id: RCV001376416 ; RCV001724306
• dbSNP Id: rs2113582384
• MyVariant Identifiers: chr5:g.149274772C>T (hg19) ; chr5:g.149895209C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895209C>T , CM000667.2:g.149895209C>T	GRCh38
NC_000005.9:g.149274772C>T , CM000667.1:g.149274772C>T	GRCh37
NC_000005.8:g.149254965C>T	NCBI36
NG_009102.1:g.54585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1702G>A MANE Select	ENSP00000255266.5:p.Gly568Arg
ENST00000255266.9:c.1702G>A	ENSP00000255266.5:p.Gly568Arg
ENST00000508173.5:n.1886G>A
ENST00000613228.1:c.1459G>A	ENSP00000478060.1:p.Gly487Arg
ENST00000617647.4:c.1459G>A	ENSP00000482774.1:p.Gly487Arg
NM_000440.2:c.1702G>A	NP_000431.2:p.Gly568Arg
XM_011537648.1:c.1702G>A	XP_011535950.1:p.Gly568Arg
XM_011537649.1:c.1156G>A	XP_011535951.1:p.Gly386Arg
XM_011537650.1:c.817G>A	XP_011535952.1:p.Gly273Arg
XM_011537651.1:c.655G>A	XP_011535953.1:p.Gly219Arg
XM_011537652.1:c.625G>A	XP_011535954.1:p.Gly209Arg
XM_011537653.1:c.625G>A	XP_011535955.1:p.Gly209Arg
XM_011537654.1:c.625G>A	XP_011535956.1:p.Gly209Arg
XM_011537650.2:c.817G>A	XP_011535952.1:p.Gly273Arg
XM_011537651.2:c.655G>A	XP_011535953.1:p.Gly219Arg
XM_011537653.2:c.625G>A	XP_011535955.1:p.Gly209Arg
XM_011537654.2:c.625G>A	XP_011535956.1:p.Gly209Arg
XM_017009572.2:c.1459G>A	XP_016865061.1:p.Gly487Arg
NM_000440.3:c.1702G>A MANE Select	NP_000431.2:p.Gly568Arg