Canonical Allele Identifier: CA3505066
Gene: PDE6A HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.149944290G>A
GRCh37 chr5:g.149323853G>A
gnomAD v2:
5:149323853 G / A
gnomAD v3:
5:149944290 G / A
gnomAD v4:
chr5-149944290-G-A
Joint Max Group AF 0.00013667 (NFE)
Genomes Max Group AF 0.00001172 (NFE)
Exomes Max Group AF 0.00014236 (NFE)
ClinVar RCV:
RCV000348073
RCV001434091
ClinVar Variation:
352002
dbSNP:
192618681
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149944290G>A , CM000667.2:g.149944290G>A GRCh38
NC_000005.9:g.149323853G>A , CM000667.1:g.149323853G>A GRCh37
NC_000005.8:g.149304046G>A NCBI36
NG_009102.1:g.5504C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255266.10:c.384C>T MANE Select ENSP00000255266.5:p.Pro128=
ENST00000255266.9:c.384C>T ENSP00000255266.5:p.Pro128=
ENST00000508173.5:n.504C>T
ENST00000613228.1:c.384C>T ENSP00000478060.1:p.Pro128=
ENST00000617647.4:c.384C>T ENSP00000482774.1:p.Pro128=
NM_000440.2:c.384C>T NP_000431.2:p.Pro128=
XM_011537648.1:c.384C>T XP_011535950.1:p.Pro128=
XM_011537649.1:c.-72-9572C>T XP_011535951.1:n.-72-9572C>T
XM_017009572.2:c.384C>T XP_016865061.1:p.Pro128=
NM_000440.3:c.384C>T MANE Select NP_000431.2:p.Pro128=
Search 100 bp 5'
Search 100 bp 3'