Canonical Allele Identifier: CA447141397

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 1905968
• ClinVar RCV Id: RCV002583905
• dbSNP Id: rs1752698019
• gnomAD v4: 5-149895288-G-A
• COSMIC: COSM3919330
• MyVariant Identifiers: chr5:g.149274851G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895288G>A , CM000667.2:g.149895288G>A	GRCh38
NC_000005.9:g.149274851G>A , CM000667.1:g.149274851G>A	GRCh37
NC_000005.8:g.149255044G>A	NCBI36
NG_009102.1:g.54506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1623C>T MANE Select	ENSP00000255266.5:p.Ala541=
ENST00000255266.9:c.1623C>T	ENSP00000255266.5:p.Ala541=
ENST00000508173.5:n.1807C>T
ENST00000613228.1:c.1380C>T	ENSP00000478060.1:p.Ala460=
ENST00000617647.4:c.1380C>T	ENSP00000482774.1:p.Ala460=
NM_000440.2:c.1623C>T	NP_000431.2:p.Ala541=
XM_011537648.1:c.1623C>T	XP_011535950.1:p.Ala541=
XM_011537649.1:c.1077C>T	XP_011535951.1:p.Ala359=
XM_011537650.1:c.738C>T	XP_011535952.1:p.Ala246=
XM_011537651.1:c.576C>T	XP_011535953.1:p.Ala192=
XM_011537652.1:c.546C>T	XP_011535954.1:p.Ala182=
XM_011537653.1:c.546C>T	XP_011535955.1:p.Ala182=
XM_011537654.1:c.546C>T	XP_011535956.1:p.Ala182=
XM_011537650.2:c.738C>T	XP_011535952.1:p.Ala246=
XM_011537651.2:c.576C>T	XP_011535953.1:p.Ala192=
XM_011537653.2:c.546C>T	XP_011535955.1:p.Ala182=
XM_011537654.2:c.546C>T	XP_011535956.1:p.Ala182=
XM_017009572.2:c.1380C>T	XP_016865061.1:p.Ala460=
NM_000440.3:c.1623C>T MANE Select	NP_000431.2:p.Ala541=