Canonical Allele Identifier: CA3504829

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 1628905
• ClinVar RCV Id: RCV002125377 ; RCV003889070
• dbSNP Id: rs121918577
• ExAC: 5:149286908 G / A
• gnomAD v2: 5-149286908-G-A
• gnomAD v3: 5-149907345-G-A
• gnomAD v4: 5-149907345-G-A
• COSMIC: COSM1064212
• MyVariant Identifiers: chr5:g.149286908G>A (hg19) ; chr5:g.149907345G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149907345G>A , CM000667.2:g.149907345G>A	GRCh38
NC_000005.9:g.149286908G>A , CM000667.1:g.149286908G>A	GRCh37
NC_000005.8:g.149267101G>A	NCBI36
NG_009102.1:g.42449C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1032C>T MANE Select	ENSP00000255266.5:p.Ser344=
ENST00000255266.9:c.1032C>T	ENSP00000255266.5:p.Ser344=
ENST00000508173.5:n.1152C>T
ENST00000613228.1:c.789C>T	ENSP00000478060.1:p.Ser263=
ENST00000617647.4:c.789C>T	ENSP00000482774.1:p.Ser263=
NM_000440.2:c.1032C>T	NP_000431.2:p.Ser344=
XM_011537648.1:c.1032C>T	XP_011535950.1:p.Ser344=
XM_011537649.1:c.486C>T	XP_011535951.1:p.Ser162=
XM_011537650.1:c.147C>T	XP_011535952.1:p.Ser49=
XM_011537652.1:c.-212C>T	XP_011535954.1:n.-212C>T
XM_011537650.2:c.147C>T	XP_011535952.1:p.Ser49=
XM_017009572.2:c.789C>T	XP_016865061.1:p.Ser263=
NM_000440.3:c.1032C>T MANE Select	NP_000431.2:p.Ser344=