Canonical Allele Identifier: CA3504242

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149860952C>T , CM000667.2:g.149860952C>T	GRCh38
NC_000005.9:g.149240515C>T , CM000667.1:g.149240515C>T	GRCh37
NC_000005.8:g.149220708C>T	NCBI36
NG_009102.1:g.88842G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.2526G>A MANE Select	NP_000431.2:p.Pro842=
ENST00000255266.10:c.2526G>A MANE Select	ENSP00000255266.5:p.Pro842=
NM_000440.2:c.2526G>A	NP_000431.2:p.Pro842=
ENST00000255266.9:c.2526G>A	ENSP00000255266.5:p.Pro842=
ENST00000508173.5:n.2710G>A
ENST00000512670.1:n.1891G>A
ENST00000613228.1:c.2283G>A	ENSP00000478060.1:p.Pro761=
ENST00000617647.4:c.2283G>A	ENSP00000482774.1:p.Pro761=
XM_011537648.1:c.2526G>A	XP_011535950.1:p.Pro842=
XM_011537649.1:c.1980G>A	XP_011535951.1:p.Pro660=
XM_011537650.1:c.1641G>A	XP_011535952.1:p.Pro547=
XM_011537650.2:c.1641G>A	XP_011535952.1:p.Pro547=
XM_011537651.1:c.1479G>A	XP_011535953.1:p.Pro493=
XM_011537651.2:c.1479G>A	XP_011535953.1:p.Pro493=
XM_011537652.1:c.1449G>A	XP_011535954.1:p.Pro483=
XM_011537653.1:c.1449G>A	XP_011535955.1:p.Pro483=
XM_011537653.2:c.1449G>A	XP_011535955.1:p.Pro483=
XM_011537654.1:c.1449G>A	XP_011535956.1:p.Pro483=
XM_011537654.2:c.1449G>A	XP_011535956.1:p.Pro483=
XM_017009572.2:c.2283G>A	XP_016865061.1:p.Pro761=