Canonical Allele Identifier: CA447140695

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149866206G>A , CM000667.2:g.149866206G>A	GRCh38
NC_000005.9:g.149245769G>A , CM000667.1:g.149245769G>A	GRCh37
NC_000005.8:g.149225962G>A	NCBI36
NG_009102.1:g.83588C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.2322C>T MANE Select	NP_000431.2:p.Val774=
ENST00000255266.10:c.2322C>T MANE Select	ENSP00000255266.5:p.Val774=
NM_000440.2:c.2322C>T	NP_000431.2:p.Val774=
ENST00000255266.9:c.2322C>T	ENSP00000255266.5:p.Val774=
ENST00000508173.5:n.2506C>T
ENST00000512670.1:n.1687C>T
ENST00000613228.1:c.2079C>T	ENSP00000478060.1:p.Val693=
ENST00000617647.4:c.2079C>T	ENSP00000482774.1:p.Val693=
XM_011537648.1:c.2322C>T	XP_011535950.1:p.Val774=
XM_011537649.1:c.1776C>T	XP_011535951.1:p.Val592=
XM_011537650.1:c.1437C>T	XP_011535952.1:p.Val479=
XM_011537650.2:c.1437C>T	XP_011535952.1:p.Val479=
XM_011537651.1:c.1275C>T	XP_011535953.1:p.Val425=
XM_011537651.2:c.1275C>T	XP_011535953.1:p.Val425=
XM_011537652.1:c.1245C>T	XP_011535954.1:p.Val415=
XM_011537653.1:c.1245C>T	XP_011535955.1:p.Val415=
XM_011537653.2:c.1245C>T	XP_011535955.1:p.Val415=
XM_011537654.1:c.1245C>T	XP_011535956.1:p.Val415=
XM_011537654.2:c.1245C>T	XP_011535956.1:p.Val415=
XM_017009572.2:c.2079C>T	XP_016865061.1:p.Val693=