Canonical Allele Identifier: CA3504722

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 1508361
• ClinVar RCV Id: RCV002016049 ; RCV002545535
• dbSNP Id: rs763913898
• ExAC: 5:149277978 T / A
• gnomAD v2: 5-149277978-T-A
• gnomAD v4: 5-149898415-T-A
• MyVariant Identifiers: chr5:g.149277978T>A (hg19) ; chr5:g.149898415T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149898415T>A , CM000667.2:g.149898415T>A	GRCh38
NC_000005.9:g.149277978T>A , CM000667.1:g.149277978T>A	GRCh37
NC_000005.8:g.149258171T>A	NCBI36
NG_009102.1:g.51379A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1355A>T MANE Select	ENSP00000255266.5:p.Asp452Val
ENST00000255266.9:c.1355A>T	ENSP00000255266.5:p.Asp452Val
ENST00000508173.5:n.1383+960A>T
ENST00000613228.1:c.1112A>T	ENSP00000478060.1:p.Asp371Val
ENST00000617647.4:c.1112A>T	ENSP00000482774.1:p.Asp371Val
NM_000440.2:c.1355A>T	NP_000431.2:p.Asp452Val
XM_011537648.1:c.1355A>T	XP_011535950.1:p.Asp452Val
XM_011537649.1:c.809A>T	XP_011535951.1:p.Asp270Val
XM_011537650.1:c.470A>T	XP_011535952.1:p.Asp157Val
XM_011537651.1:c.308A>T	XP_011535953.1:p.Asp103Val
XM_011537652.1:c.278A>T	XP_011535954.1:p.Asp93Val
XM_011537653.1:c.278A>T	XP_011535955.1:p.Asp93Val
XM_011537654.1:c.278A>T	XP_011535956.1:p.Asp93Val
XM_011537650.2:c.470A>T	XP_011535952.1:p.Asp157Val
XM_011537651.2:c.308A>T	XP_011535953.1:p.Asp103Val
XM_011537653.2:c.278A>T	XP_011535955.1:p.Asp93Val
XM_011537654.2:c.278A>T	XP_011535956.1:p.Asp93Val
XM_017009572.2:c.1112A>T	XP_016865061.1:p.Asp371Val
NM_000440.3:c.1355A>T MANE Select	NP_000431.2:p.Asp452Val