Canonical Allele Identifier: CA3504996

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 351998
• ClinVar RCV Id: RCV000331903 ; RCV001346375
• dbSNP Id: rs757034771
• ExAC: 5:149313587 A / C
• gnomAD v2: 5-149313587-A-C
• gnomAD v3: 5-149934024-A-C
• gnomAD v4: 5-149934024-A-C
• MyVariant Identifiers: chr5:g.149313587A>C (hg19) ; chr5:g.149934024A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149934024A>C , CM000667.2:g.149934024A>C	GRCh38
NC_000005.9:g.149313587A>C , CM000667.1:g.149313587A>C	GRCh37
NC_000005.8:g.149293780A>C	NCBI36
NG_009102.1:g.15770T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.628-5T>G MANE Select	ENSP00000255266.5:n.628-5T>G
ENST00000255266.9:c.628-5T>G	ENSP00000255266.5:n.628-5T>G
ENST00000508173.5:n.748-5T>G
ENST00000613228.1:c.475-2856T>G	ENSP00000478060.1:n.475-2856T>G
ENST00000617647.4:c.475-2856T>G	ENSP00000482774.1:n.475-2856T>G
NM_000440.2:c.628-5T>G	NP_000431.2:n.628-5T>G
XM_011537648.1:c.628-5T>G	XP_011535950.1:n.628-5T>G
XM_011537649.1:c.82-5T>G	XP_011535951.1:n.82-5T>G
XM_017009572.2:c.475-2856T>G	XP_016865061.1:n.475-2856T>G
NM_000440.3:c.628-5T>G MANE Select	NP_000431.2:n.628-5T>G