Canonical Allele Identifier: CA8838966

Gene: PDE6G

Linked Data

• ClinVar Variation Id: 325860
• ClinVar RCV Id: RCV000283768 ; RCV001788199
• dbSNP Id: rs8477
• ExAC: 17:79618059 C / T
• gnomAD v2: 17-79618059-C-T
• gnomAD v3: 17-81651029-C-T
• gnomAD v4: 17-81651029-C-T
• MyVariant Identifiers: chr17:g.79618059C>T (hg19) ; chr17:g.81651029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81651029C>T , CM000679.2:g.81651029C>T	GRCh38
NC_000017.10:g.79618059C>T , CM000679.1:g.79618059C>T	GRCh37
NC_000017.9:g.77228464C>T	NCBI36
NG_009834.1:g.10549G>A
NG_009834.2:g.17390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331056.10:c.*45G>A MANE Select	ENSP00000328412.5:n.*45G>A
ENST00000331056.9:c.*45G>A	ENSP00000328412.5:n.*45G>A
ENST00000571004.1:c.*45G>A	ENSP00000461464.1:n.*45G>A
ENST00000571224.5:c.*45G>A	ENSP00000458167.1:n.*45G>A
ENST00000573076.5:c.*45G>A	ENSP00000458567.1:n.*45G>A
ENST00000574024.1:c.242G>A	ENSP00000460962.1:n.242G>A
ENST00000574777.1:n.209G>A
NM_002602.3:c.*45G>A	NP_002593.1:n.*45G>A
NR_026872.1:n.248G>A
XM_006721942.2:c.*45G>A	XP_006722005.1:n.*45G>A
NM_001365724.1:c.*45G>A	NP_001352653.1:n.*45G>A
NM_001365725.1:c.*45G>A	NP_001352654.1:n.*45G>A
NR_158591.1:n.232G>A
XM_006721942.3:c.*45G>A	XP_006722005.1:n.*45G>A
XM_017024734.1:c.*45G>A	XP_016880223.1:n.*45G>A
XM_017024736.1:c.*45G>A	XP_016880225.1:n.*45G>A
NM_002602.4:c.*45G>A MANE Select	NP_002593.1:n.*45G>A
NR_026872.2:n.213G>A