Canonical Allele Identifier: CA1590702597

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895251G= , CM000667.2:g.149895251G=	GRCh38
NC_000005.9:g.149274814G= , CM000667.1:g.149274814G=	GRCh37
NC_000005.8:g.149255007G=	NCBI36
NG_009102.1:g.54543C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1660C= MANE Select	ENSP00000255266.5:p.Arg554=
ENST00000255266.9:c.1660C=	ENSP00000255266.5:p.Arg554=
ENST00000508173.5:n.1844C=
ENST00000613228.1:c.1417C=	ENSP00000478060.1:p.Arg473=
ENST00000617647.4:c.1417C=	ENSP00000482774.1:p.Arg473=
NM_000440.2:c.1660C=	NP_000431.2:p.Arg554=
XM_011537648.1:c.1660C=	XP_011535950.1:p.Arg554=
XM_011537649.1:c.1114C=	XP_011535951.1:p.Arg372=
XM_011537650.1:c.775C=	XP_011535952.1:p.Arg259=
XM_011537651.1:c.613C=	XP_011535953.1:p.Arg205=
XM_011537652.1:c.583C=	XP_011535954.1:p.Arg195=
XM_011537653.1:c.583C=	XP_011535955.1:p.Arg195=
XM_011537654.1:c.583C=	XP_011535956.1:p.Arg195=
XM_011537650.2:c.775C=	XP_011535952.1:p.Arg259=
XM_011537651.2:c.613C=	XP_011535953.1:p.Arg205=
XM_011537653.2:c.583C=	XP_011535955.1:p.Arg195=
XM_011537654.2:c.583C=	XP_011535956.1:p.Arg195=
XM_017009572.2:c.1417C=	XP_016865061.1:p.Arg473=
NM_000440.3:c.1660C= MANE Select	NP_000431.2:p.Arg554=