Canonical Allele Identifier: CA3505167

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 352009
• ClinVar RCV Id: RCV000273676 ; RCV001672657
• dbSNP Id: rs112926956
• ExAC: 5:149324247 C / A
• gnomAD v2: 5-149324247-C-A
• gnomAD v3: 5-149944684-C-A
• gnomAD v4: 5-149944684-C-A
• MyVariant Identifiers: chr5:g.149324247C>A (hg19) ; chr5:g.149944684C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149944684C>A , CM000667.2:g.149944684C>A	GRCh38
NC_000005.9:g.149324247C>A , CM000667.1:g.149324247C>A	GRCh37
NC_000005.8:g.149304440C>A	NCBI36
NG_009102.1:g.5110G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.-11G>T MANE Select	ENSP00000255266.5:n.-11G>T
ENST00000255266.9:c.-11G>T	ENSP00000255266.5:n.-11G>T
ENST00000508173.5:n.110G>T
ENST00000613228.1:c.-11G>T	ENSP00000478060.1:n.-11G>T
ENST00000617647.4:c.-11G>T	ENSP00000482774.1:n.-11G>T
NM_000440.2:c.-11G>T	NP_000431.2:n.-11G>T
XM_011537648.1:c.-11G>T	XP_011535950.1:n.-11G>T
XM_011537649.1:c.-72-9966G>T	XP_011535951.1:n.-72-9966G>T
XM_017009572.2:c.-11G>T	XP_016865061.1:n.-11G>T
NM_000440.3:c.-11G>T MANE Select	NP_000431.2:n.-11G>T