Canonical Allele Identifier: CA3504352

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149867750C>T , CM000667.2:g.149867750C>T	GRCh38
NC_000005.9:g.149247313C>T , CM000667.1:g.149247313C>T	GRCh37
NC_000005.8:g.149227506C>T	NCBI36
NG_009102.1:g.82044G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.2249G>A MANE Select	NP_000431.2:p.Arg750His
ENST00000255266.10:c.2249G>A MANE Select	ENSP00000255266.5:p.Arg750His
NM_000440.2:c.2249G>A	NP_000431.2:p.Arg750His
ENST00000255266.9:c.2249G>A	ENSP00000255266.5:p.Arg750His
ENST00000508173.5:n.2433G>A
ENST00000512670.1:n.143G>A
ENST00000613228.1:c.2006G>A	ENSP00000478060.1:p.Arg669His
ENST00000617647.4:c.2006G>A	ENSP00000482774.1:p.Arg669His
XM_011537648.1:c.2249G>A	XP_011535950.1:p.Arg750His
XM_011537649.1:c.1703G>A	XP_011535951.1:p.Arg568His
XM_011537650.1:c.1364G>A	XP_011535952.1:p.Arg455His
XM_011537650.2:c.1364G>A	XP_011535952.1:p.Arg455His
XM_011537651.1:c.1202G>A	XP_011535953.1:p.Arg401His
XM_011537651.2:c.1202G>A	XP_011535953.1:p.Arg401His
XM_011537652.1:c.1172G>A	XP_011535954.1:p.Arg391His
XM_011537653.1:c.1172G>A	XP_011535955.1:p.Arg391His
XM_011537653.2:c.1172G>A	XP_011535955.1:p.Arg391His
XM_011537654.1:c.1172G>A	XP_011535956.1:p.Arg391His
XM_011537654.2:c.1172G>A	XP_011535956.1:p.Arg391His
XM_017009572.2:c.2006G>A	XP_016865061.1:p.Arg669His