Canonical Allele Identifier: CA1590722412

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149944370G= , CM000667.2:g.149944370G=	GRCh38
NC_000005.9:g.149323933G= , CM000667.1:g.149323933G=	GRCh37
NC_000005.8:g.149304126G=	NCBI36
NG_009102.1:g.5424C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.304C= MANE Select	NP_000431.2:p.Arg102=
ENST00000255266.10:c.304C= MANE Select	ENSP00000255266.5:p.Arg102=
NM_000440.2:c.304C=	NP_000431.2:p.Arg102=
ENST00000255266.9:c.304C=	ENSP00000255266.5:p.Arg102=
ENST00000508173.5:n.424C=
ENST00000613228.1:c.304C=	ENSP00000478060.1:p.Arg102=
ENST00000617647.4:c.304C=	ENSP00000482774.1:p.Arg102=
XM_011537648.1:c.304C=	XP_011535950.1:p.Arg102=
XM_011537649.1:c.-72-9652C=	XP_011535951.1:n.-72-9652C=
XM_017009572.2:c.304C=	XP_016865061.1:p.Arg102=