Canonical Allele Identifier: CA3505068

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 236450
• ClinVar RCV Id: RCV000225533 ; RCV000262570 ; RCV000407618 ; RCV002487040
• dbSNP Id: rs147010346
• ExAC: 5:149323870 C / A
• gnomAD v2: 5-149323870-C-A
• gnomAD v3: 5-149944307-C-A
• gnomAD v4: 5-149944307-C-A
• MyVariant Identifiers: chr5:g.149323870C>A (hg19) ; chr5:g.149944307C>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149944307C>A , CM000667.2:g.149944307C>A	GRCh38
NC_000005.9:g.149323870C>A , CM000667.1:g.149323870C>A	GRCh37
NC_000005.8:g.149304063C>A	NCBI36
NG_009102.1:g.5487G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.367G>T MANE Select	ENSP00000255266.5:p.Asp123Tyr
ENST00000255266.9:c.367G>T	ENSP00000255266.5:p.Asp123Tyr
ENST00000508173.5:n.487G>T
ENST00000613228.1:c.367G>T	ENSP00000478060.1:p.Asp123Tyr
ENST00000617647.4:c.367G>T	ENSP00000482774.1:p.Asp123Tyr
NM_000440.2:c.367G>T	NP_000431.2:p.Asp123Tyr
XM_011537648.1:c.367G>T	XP_011535950.1:p.Asp123Tyr
XM_011537649.1:c.-72-9589G>T	XP_011535951.1:n.-72-9589G>T
XM_017009572.2:c.367G>T	XP_016865061.1:p.Asp123Tyr
NM_000440.3:c.367G>T MANE Select	NP_000431.2:p.Asp123Tyr