Canonical Allele Identifier: CA203011

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 197670
• ClinVar RCV Id: RCV000178770 ; RCV000787859 ; RCV000954915 ; RCV003888635
• dbSNP Id: rs114973968
• ExAC: 5:149301253 G / A
• gnomAD v2: 5-149301253-G-A
• gnomAD v3: 5-149921690-G-A
• gnomAD v4: 5-149921690-G-A
• MyVariant Identifiers: chr5:g.149301253G>A (hg19) ; chr5:g.149921690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149921690G>A , CM000667.2:g.149921690G>A	GRCh38
NC_000005.9:g.149301253G>A , CM000667.1:g.149301253G>A	GRCh37
NC_000005.8:g.149281446G>A	NCBI36
NG_009102.1:g.28104C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.878C>T MANE Select	ENSP00000255266.5:p.Pro293Leu
ENST00000255266.9:c.878C>T	ENSP00000255266.5:p.Pro293Leu
ENST00000508173.5:n.998C>T
ENST00000613228.1:c.635C>T	ENSP00000478060.1:p.Pro212Leu
ENST00000617647.4:c.635C>T	ENSP00000482774.1:p.Pro212Leu
NM_000440.2:c.878C>T	NP_000431.2:p.Pro293Leu
XM_011537648.1:c.878C>T	XP_011535950.1:p.Pro293Leu
XM_011537649.1:c.332C>T	XP_011535951.1:p.Pro111Leu
XM_011537650.1:c.-8C>T	XP_011535952.1:n.-8C>T
XM_011537650.2:c.-8C>T	XP_011535952.1:n.-8C>T
XM_017009572.2:c.635C>T	XP_016865061.1:p.Pro212Leu
NM_000440.3:c.878C>T MANE Select	NP_000431.2:p.Pro293Leu