Canonical Allele Identifier: CA361696313

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149898483C>T , CM000667.2:g.149898483C>T	GRCh38
NC_000005.9:g.149278046C>T , CM000667.1:g.149278046C>T	GRCh37
NC_000005.8:g.149258239C>T	NCBI36
NG_009102.1:g.51311G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.1287G>A MANE Select	NP_000431.2:p.Trp429Ter
ENST00000255266.10:c.1287G>A MANE Select	ENSP00000255266.5:p.Trp429Ter
NM_000440.2:c.1287G>A	NP_000431.2:p.Trp429Ter
ENST00000255266.9:c.1287G>A	ENSP00000255266.5:p.Trp429Ter
ENST00000508173.5:n.1383+892G>A
ENST00000613228.1:c.1044G>A	ENSP00000478060.1:p.Trp348Ter
ENST00000617647.4:c.1044G>A	ENSP00000482774.1:p.Trp348Ter
XM_011537648.1:c.1287G>A	XP_011535950.1:p.Trp429Ter
XM_011537649.1:c.741G>A	XP_011535951.1:p.Trp247Ter
XM_011537650.1:c.402G>A	XP_011535952.1:p.Trp134Ter
XM_011537650.2:c.402G>A	XP_011535952.1:p.Trp134Ter
XM_011537651.1:c.240G>A	XP_011535953.1:p.Trp80Ter
XM_011537651.2:c.240G>A	XP_011535953.1:p.Trp80Ter
XM_011537652.1:c.210G>A	XP_011535954.1:p.Trp70Ter
XM_011537653.1:c.210G>A	XP_011535955.1:p.Trp70Ter
XM_011537653.2:c.210G>A	XP_011535955.1:p.Trp70Ter
XM_011537654.1:c.210G>A	XP_011535956.1:p.Trp70Ter
XM_011537654.2:c.210G>A	XP_011535956.1:p.Trp70Ter
XM_017009572.2:c.1044G>A	XP_016865061.1:p.Trp348Ter