Canonical Allele Identifier: CA3504547

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149886358C>T , CM000667.2:g.149886358C>T	GRCh38
NC_000005.9:g.149265921C>T , CM000667.1:g.149265921C>T	GRCh37
NC_000005.8:g.149246114C>T	NCBI36
NG_009102.1:g.63436G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.1745G>A MANE Select	NP_000431.2:p.Arg582His
ENST00000255266.10:c.1745G>A MANE Select	ENSP00000255266.5:p.Arg582His
NM_000440.2:c.1745G>A	NP_000431.2:p.Arg582His
ENST00000255266.9:c.1745G>A	ENSP00000255266.5:p.Arg582His
ENST00000508173.5:n.1929G>A
ENST00000613228.1:c.1502G>A	ENSP00000478060.1:p.Arg501His
ENST00000617647.4:c.1502G>A	ENSP00000482774.1:p.Arg501His
XM_011537648.1:c.1745G>A	XP_011535950.1:p.Arg582His
XM_011537649.1:c.1199G>A	XP_011535951.1:p.Arg400His
XM_011537650.1:c.860G>A	XP_011535952.1:p.Arg287His
XM_011537650.2:c.860G>A	XP_011535952.1:p.Arg287His
XM_011537651.1:c.698G>A	XP_011535953.1:p.Arg233His
XM_011537651.2:c.698G>A	XP_011535953.1:p.Arg233His
XM_011537652.1:c.668G>A	XP_011535954.1:p.Arg223His
XM_011537653.1:c.668G>A	XP_011535955.1:p.Arg223His
XM_011537653.2:c.668G>A	XP_011535955.1:p.Arg223His
XM_011537654.1:c.668G>A	XP_011535956.1:p.Arg223His
XM_011537654.2:c.668G>A	XP_011535956.1:p.Arg223His
XM_017009572.2:c.1502G>A	XP_016865061.1:p.Arg501His