Canonical Allele Identifier: CA3504455

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 351983
• ClinVar RCV Id: RCV000266622 ; RCV000927531 ; RCV003888836
• dbSNP Id: rs199748187
• ExAC: 5:149264115 G / A
• gnomAD v2: 5-149264115-G-A
• gnomAD v3: 5-149884552-G-A
• gnomAD v4: 5-149884552-G-A
• MyVariant Identifiers: chr5:g.149264115G>A (hg19) ; chr5:g.149884552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149884552G>A , CM000667.2:g.149884552G>A	GRCh38
NC_000005.9:g.149264115G>A , CM000667.1:g.149264115G>A	GRCh37
NC_000005.8:g.149244308G>A	NCBI36
NG_009102.1:g.65242C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1954C>T MANE Select	ENSP00000255266.5:p.Arg652Cys
ENST00000255266.9:c.1954C>T	ENSP00000255266.5:p.Arg652Cys
ENST00000508173.5:n.2138C>T
ENST00000613228.1:c.1711C>T	ENSP00000478060.1:p.Arg571Cys
ENST00000617647.4:c.1711C>T	ENSP00000482774.1:p.Arg571Cys
NM_000440.2:c.1954C>T	NP_000431.2:p.Arg652Cys
XM_011537648.1:c.1954C>T	XP_011535950.1:p.Arg652Cys
XM_011537649.1:c.1408C>T	XP_011535951.1:p.Arg470Cys
XM_011537650.1:c.1069C>T	XP_011535952.1:p.Arg357Cys
XM_011537651.1:c.907C>T	XP_011535953.1:p.Arg303Cys
XM_011537652.1:c.877C>T	XP_011535954.1:p.Arg293Cys
XM_011537653.1:c.877C>T	XP_011535955.1:p.Arg293Cys
XM_011537654.1:c.877C>T	XP_011535956.1:p.Arg293Cys
XM_011537650.2:c.1069C>T	XP_011535952.1:p.Arg357Cys
XM_011537651.2:c.907C>T	XP_011535953.1:p.Arg303Cys
XM_011537653.2:c.877C>T	XP_011535955.1:p.Arg293Cys
XM_011537654.2:c.877C>T	XP_011535956.1:p.Arg293Cys
XM_017009572.2:c.1711C>T	XP_016865061.1:p.Arg571Cys
NM_000440.3:c.1954C>T MANE Select	NP_000431.2:p.Arg652Cys