Canonical Allele Identifier: CA1590694640

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149883518T= , CM000667.2:g.149883518T=	GRCh38
NC_000005.9:g.149263081T= , CM000667.1:g.149263081T=	GRCh37
NC_000005.8:g.149243274T=	NCBI36
NG_009102.1:g.66276A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.2046A= MANE Select	ENSP00000255266.5:p.Gln682=
ENST00000255266.9:c.2046A=	ENSP00000255266.5:p.Gln682=
ENST00000508173.5:n.2230A=
ENST00000613228.1:c.1803A=	ENSP00000478060.1:p.Gln601=
ENST00000617647.4:c.1803A=	ENSP00000482774.1:p.Gln601=
NM_000440.2:c.2046A=	NP_000431.2:p.Gln682=
XM_011537648.1:c.2046A=	XP_011535950.1:p.Gln682=
XM_011537649.1:c.1500A=	XP_011535951.1:p.Gln500=
XM_011537650.1:c.1161A=	XP_011535952.1:p.Gln387=
XM_011537651.1:c.999A=	XP_011535953.1:p.Gln333=
XM_011537652.1:c.969A=	XP_011535954.1:p.Gln323=
XM_011537653.1:c.969A=	XP_011535955.1:p.Gln323=
XM_011537654.1:c.969A=	XP_011535956.1:p.Gln323=
XM_011537650.2:c.1161A=	XP_011535952.1:p.Gln387=
XM_011537651.2:c.999A=	XP_011535953.1:p.Gln333=
XM_011537653.2:c.969A=	XP_011535955.1:p.Gln323=
XM_011537654.2:c.969A=	XP_011535956.1:p.Gln323=
XM_017009572.2:c.1803A=	XP_016865061.1:p.Gln601=
NM_000440.3:c.2046A= MANE Select	NP_000431.2:p.Gln682=