Canonical Allele Identifier: CA1590702423

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895188G= , CM000667.2:g.149895188G=	GRCh38
NC_000005.9:g.149274751G= , CM000667.1:g.149274751G=	GRCh37
NC_000005.8:g.149254944G=	NCBI36
NG_009102.1:g.54606C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1723C= MANE Select	ENSP00000255266.5:p.Leu575=
ENST00000255266.9:c.1723C=	ENSP00000255266.5:p.Leu575=
ENST00000508173.5:n.1907C=
ENST00000613228.1:c.1480C=	ENSP00000478060.1:p.Leu494=
ENST00000617647.4:c.1480C=	ENSP00000482774.1:p.Leu494=
NM_000440.2:c.1723C=	NP_000431.2:p.Leu575=
XM_011537648.1:c.1723C=	XP_011535950.1:p.Leu575=
XM_011537649.1:c.1177C=	XP_011535951.1:p.Leu393=
XM_011537650.1:c.838C=	XP_011535952.1:p.Leu280=
XM_011537651.1:c.676C=	XP_011535953.1:p.Leu226=
XM_011537652.1:c.646C=	XP_011535954.1:p.Leu216=
XM_011537653.1:c.646C=	XP_011535955.1:p.Leu216=
XM_011537654.1:c.646C=	XP_011535956.1:p.Leu216=
XM_011537650.2:c.838C=	XP_011535952.1:p.Leu280=
XM_011537651.2:c.676C=	XP_011535953.1:p.Leu226=
XM_011537653.2:c.646C=	XP_011535955.1:p.Leu216=
XM_011537654.2:c.646C=	XP_011535956.1:p.Leu216=
XM_017009572.2:c.1480C=	XP_016865061.1:p.Leu494=
NM_000440.3:c.1723C= MANE Select	NP_000431.2:p.Leu575=