Canonical Allele Identifier: CA3504453

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 437983
• ClinVar RCV Id: RCV000622936 ; RCV000627204 ; RCV000504732
• dbSNP Id: rs753942596
• ExAC: 5:149264112 G / A
• gnomAD v2: 5-149264112-G-A
• gnomAD v3: 5-149884549-G-A
• gnomAD v4: 5-149884549-G-A
• MyVariant Identifiers: chr5:g.149264112G>A (hg19) ; chr5:g.149884549G>A (hg38)
• PubMed: PMID:26321862 ; PMID:26496393 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149884549G>A , CM000667.2:g.149884549G>A	GRCh38
NC_000005.9:g.149264112G>A , CM000667.1:g.149264112G>A	GRCh37
NC_000005.8:g.149244305G>A	NCBI36
NG_009102.1:g.65245C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1957C>T MANE Select	ENSP00000255266.5:p.Arg653Ter
ENST00000255266.9:c.1957C>T	ENSP00000255266.5:p.Arg653Ter
ENST00000508173.5:n.2141C>T
ENST00000613228.1:c.1714C>T	ENSP00000478060.1:p.Arg572Ter
ENST00000617647.4:c.1714C>T	ENSP00000482774.1:p.Arg572Ter
NM_000440.2:c.1957C>T	NP_000431.2:p.Arg653Ter
XM_011537648.1:c.1957C>T	XP_011535950.1:p.Arg653Ter
XM_011537649.1:c.1411C>T	XP_011535951.1:p.Arg471Ter
XM_011537650.1:c.1072C>T	XP_011535952.1:p.Arg358Ter
XM_011537651.1:c.910C>T	XP_011535953.1:p.Arg304Ter
XM_011537652.1:c.880C>T	XP_011535954.1:p.Arg294Ter
XM_011537653.1:c.880C>T	XP_011535955.1:p.Arg294Ter
XM_011537654.1:c.880C>T	XP_011535956.1:p.Arg294Ter
XM_011537650.2:c.1072C>T	XP_011535952.1:p.Arg358Ter
XM_011537651.2:c.910C>T	XP_011535953.1:p.Arg304Ter
XM_011537653.2:c.880C>T	XP_011535955.1:p.Arg294Ter
XM_011537654.2:c.880C>T	XP_011535956.1:p.Arg294Ter
XM_017009572.2:c.1714C>T	XP_016865061.1:p.Arg572Ter
NM_000440.3:c.1957C>T MANE Select	NP_000431.2:p.Arg653Ter