Canonical Allele Identifier: CA361698810

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149286910T>G (hg19) ; chr5:g.149907347T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149907347T>G , CM000667.2:g.149907347T>G	GRCh38
NC_000005.9:g.149286910T>G , CM000667.1:g.149286910T>G	GRCh37
NC_000005.8:g.149267103T>G	NCBI36
NG_009102.1:g.42447A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1030A>C MANE Select	ENSP00000255266.5:p.Ser344Arg
ENST00000255266.9:c.1030A>C	ENSP00000255266.5:p.Ser344Arg
ENST00000508173.5:n.1150A>C
ENST00000613228.1:c.787A>C	ENSP00000478060.1:p.Ser263Arg
ENST00000617647.4:c.787A>C	ENSP00000482774.1:p.Ser263Arg
NM_000440.2:c.1030A>C	NP_000431.2:p.Ser344Arg
XM_011537648.1:c.1030A>C	XP_011535950.1:p.Ser344Arg
XM_011537649.1:c.484A>C	XP_011535951.1:p.Ser162Arg
XM_011537650.1:c.145A>C	XP_011535952.1:p.Ser49Arg
XM_011537652.1:c.-214A>C	XP_011535954.1:n.-214A>C
XM_011537650.2:c.145A>C	XP_011535952.1:p.Ser49Arg
XM_017009572.2:c.787A>C	XP_016865061.1:p.Ser263Arg
NM_000440.3:c.1030A>C MANE Select	NP_000431.2:p.Ser344Arg