Canonical Allele Identifier: CA447141388

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274844G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895281G>T , CM000667.2:g.149895281G>T	GRCh38
NC_000005.9:g.149274844G>T , CM000667.1:g.149274844G>T	GRCh37
NC_000005.8:g.149255037G>T	NCBI36
NG_009102.1:g.54513C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1630C>A MANE Select	ENSP00000255266.5:p.Arg544=
ENST00000255266.9:c.1630C>A	ENSP00000255266.5:p.Arg544=
ENST00000508173.5:n.1814C>A
ENST00000613228.1:c.1387C>A	ENSP00000478060.1:p.Arg463=
ENST00000617647.4:c.1387C>A	ENSP00000482774.1:p.Arg463=
NM_000440.2:c.1630C>A	NP_000431.2:p.Arg544=
XM_011537648.1:c.1630C>A	XP_011535950.1:p.Arg544=
XM_011537649.1:c.1084C>A	XP_011535951.1:p.Arg362=
XM_011537650.1:c.745C>A	XP_011535952.1:p.Arg249=
XM_011537651.1:c.583C>A	XP_011535953.1:p.Arg195=
XM_011537652.1:c.553C>A	XP_011535954.1:p.Arg185=
XM_011537653.1:c.553C>A	XP_011535955.1:p.Arg185=
XM_011537654.1:c.553C>A	XP_011535956.1:p.Arg185=
XM_011537650.2:c.745C>A	XP_011535952.1:p.Arg249=
XM_011537651.2:c.583C>A	XP_011535953.1:p.Arg195=
XM_011537653.2:c.553C>A	XP_011535955.1:p.Arg185=
XM_011537654.2:c.553C>A	XP_011535956.1:p.Arg185=
XM_017009572.2:c.1387C>A	XP_016865061.1:p.Arg463=
NM_000440.3:c.1630C>A MANE Select	NP_000431.2:p.Arg544=