Canonical Allele Identifier: CA1590702314

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895138G= , CM000667.2:g.149895138G=	GRCh38
NC_000005.9:g.149274701G= , CM000667.1:g.149274701G=	GRCh37
NC_000005.8:g.149254894G=	NCBI36
NG_009102.1:g.54656C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1728+45C= MANE Select	ENSP00000255266.5:n.1728+45C=
ENST00000255266.9:c.1728+45C=	ENSP00000255266.5:n.1728+45C=
ENST00000508173.5:n.1912+45C=
ENST00000613228.1:c.1485+45C=	ENSP00000478060.1:n.1485+45C=
ENST00000617647.4:c.1485+45C=	ENSP00000482774.1:n.1485+45C=
NM_000440.2:c.1728+45C=	NP_000431.2:n.1728+45C=
XM_011537648.1:c.1728+45C=	XP_011535950.1:n.1728+45C=
XM_011537649.1:c.1182+45C=	XP_011535951.1:n.1182+45C=
XM_011537650.1:c.843+45C=	XP_011535952.1:n.843+45C=
XM_011537651.1:c.681+45C=	XP_011535953.1:n.681+45C=
XM_011537652.1:c.651+45C=	XP_011535954.1:n.651+45C=
XM_011537653.1:c.651+45C=	XP_011535955.1:n.651+45C=
XM_011537654.1:c.651+45C=	XP_011535956.1:n.651+45C=
XM_011537650.2:c.843+45C=	XP_011535952.1:n.843+45C=
XM_011537651.2:c.681+45C=	XP_011535953.1:n.681+45C=
XM_011537653.2:c.651+45C=	XP_011535955.1:n.651+45C=
XM_011537654.2:c.651+45C=	XP_011535956.1:n.651+45C=
XM_017009572.2:c.1485+45C=	XP_016865061.1:n.1485+45C=
NM_000440.3:c.1728+45C= MANE Select	NP_000431.2:n.1728+45C=