Canonical Allele Identifier: CA3504675

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 1112100
• ClinVar RCV Id: RCV001438903
• dbSNP Id: rs201026028
• ExAC: 5:149276262 G / A
• gnomAD v2: 5-149276262-G-A
• gnomAD v3: 5-149896699-G-A
• gnomAD v4: 5-149896699-G-A
• MyVariant Identifiers: chr5:g.149276262G>A (hg19) ; chr5:g.149896699G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149896699G>A , CM000667.2:g.149896699G>A	GRCh38
NC_000005.9:g.149276262G>A , CM000667.1:g.149276262G>A	GRCh37
NC_000005.8:g.149256455G>A	NCBI36
NG_009102.1:g.53095C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1473+12C>T MANE Select	ENSP00000255266.5:n.1473+12C>T
ENST00000255266.9:c.1473+12C>T	ENSP00000255266.5:n.1473+12C>T
ENST00000508173.5:n.1461C>T
ENST00000613228.1:c.1230+12C>T	ENSP00000478060.1:n.1230+12C>T
ENST00000617647.4:c.1230+12C>T	ENSP00000482774.1:n.1230+12C>T
NM_000440.2:c.1473+12C>T	NP_000431.2:n.1473+12C>T
XM_011537648.1:c.1473+12C>T	XP_011535950.1:n.1473+12C>T
XM_011537649.1:c.927+12C>T	XP_011535951.1:n.927+12C>T
XM_011537650.1:c.588+12C>T	XP_011535952.1:n.588+12C>T
XM_011537651.1:c.426+12C>T	XP_011535953.1:n.426+12C>T
XM_011537652.1:c.396+12C>T	XP_011535954.1:n.396+12C>T
XM_011537653.1:c.396+12C>T	XP_011535955.1:n.396+12C>T
XM_011537654.1:c.396+12C>T	XP_011535956.1:n.396+12C>T
XM_011537650.2:c.588+12C>T	XP_011535952.1:n.588+12C>T
XM_011537651.2:c.426+12C>T	XP_011535953.1:n.426+12C>T
XM_011537653.2:c.396+12C>T	XP_011535955.1:n.396+12C>T
XM_011537654.2:c.396+12C>T	XP_011535956.1:n.396+12C>T
XM_017009572.2:c.1230+12C>T	XP_016865061.1:n.1230+12C>T
NM_000440.3:c.1473+12C>T MANE Select	NP_000431.2:n.1473+12C>T