Canonical Allele Identifier: CA3124061281

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149898409A= , CM000667.2:g.149898409A=	GRCh38
NC_000005.9:g.149277972A= , CM000667.1:g.149277972A=	GRCh37
NC_000005.8:g.149258165A=	NCBI36
NG_009102.1:g.51385T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.1361T= MANE Select	NP_000431.2:p.Val454=
ENST00000255266.10:c.1361T= MANE Select	ENSP00000255266.5:p.Val454=
NM_000440.2:c.1361T=	NP_000431.2:p.Val454=
ENST00000255266.9:c.1361T=	ENSP00000255266.5:p.Val454=
ENST00000508173.5:n.1383+966T=
ENST00000613228.1:c.1118T=	ENSP00000478060.1:p.Val373=
ENST00000617647.4:c.1118T=	ENSP00000482774.1:p.Val373=
XM_011537648.1:c.1361T=	XP_011535950.1:p.Val454=
XM_011537649.1:c.815T=	XP_011535951.1:p.Val272=
XM_011537650.1:c.476T=	XP_011535952.1:p.Val159=
XM_011537650.2:c.476T=	XP_011535952.1:p.Val159=
XM_011537651.1:c.314T=	XP_011535953.1:p.Val105=
XM_011537651.2:c.314T=	XP_011535953.1:p.Val105=
XM_011537652.1:c.284T=	XP_011535954.1:p.Val95=
XM_011537653.1:c.284T=	XP_011535955.1:p.Val95=
XM_011537653.2:c.284T=	XP_011535955.1:p.Val95=
XM_011537654.1:c.284T=	XP_011535956.1:p.Val95=
XM_011537654.2:c.284T=	XP_011535956.1:p.Val95=
XM_017009572.2:c.1118T=	XP_016865061.1:p.Val373=