Canonical Allele Identifier: CA1590704766

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149907345G= , CM000667.2:g.149907345G=	GRCh38
NC_000005.9:g.149286908G= , CM000667.1:g.149286908G=	GRCh37
NC_000005.8:g.149267101G=	NCBI36
NG_009102.1:g.42449C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.1032C= MANE Select	NP_000431.2:p.Ser344=
ENST00000255266.10:c.1032C= MANE Select	ENSP00000255266.5:p.Ser344=
NM_000440.2:c.1032C=	NP_000431.2:p.Ser344=
ENST00000255266.9:c.1032C=	ENSP00000255266.5:p.Ser344=
ENST00000508173.5:n.1152C=
ENST00000613228.1:c.789C=	ENSP00000478060.1:p.Ser263=
ENST00000617647.4:c.789C=	ENSP00000482774.1:p.Ser263=
XM_011537648.1:c.1032C=	XP_011535950.1:p.Ser344=
XM_011537649.1:c.486C=	XP_011535951.1:p.Ser162=
XM_011537650.1:c.147C=	XP_011535952.1:p.Ser49=
XM_011537650.2:c.147C=	XP_011535952.1:p.Ser49=
XM_011537652.1:c.-212C=	XP_011535954.1:n.-212C=
XM_017009572.2:c.789C=	XP_016865061.1:p.Ser263=