Canonical Allele Identifier: CA220833
Gene: PDE6A HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.149934599C>T
GRCh37 chr5:g.149314162C>T
gnomAD v2:
5:149314162 C / T
gnomAD v3:
5:149934599 C / T
gnomAD v4:
chr5-149934599-C-T
Joint Max Group AF 0.00012561 (NFE)
Genomes Max Group AF 0.00013494 (NFE)
Exomes Max Group AF 0.00012091 (NFE)
ClinVar RCV:
RCV000078826
RCV000386318
ClinVar Variation:
93011
dbSNP:
398123394
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149934599C>T , CM000667.2:g.149934599C>T GRCh38
NC_000005.9:g.149314162C>T , CM000667.1:g.149314162C>T GRCh37
NC_000005.8:g.149294355C>T NCBI36
NG_009102.1:g.15195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255266.10:c.594G>A MANE Select ENSP00000255266.5:p.Val198=
ENST00000255266.9:c.594G>A ENSP00000255266.5:p.Val198=
ENST00000508173.5:n.714G>A
ENST00000613228.1:c.475-3431G>A ENSP00000478060.1:n.475-3431G>A
ENST00000617647.4:c.475-3431G>A ENSP00000482774.1:n.475-3431G>A
NM_000440.2:c.594G>A NP_000431.2:p.Val198=
XM_011537648.1:c.594G>A XP_011535950.1:p.Val198=
XM_011537649.1:c.48G>A XP_011535951.1:p.Val16=
XM_017009572.2:c.475-3431G>A XP_016865061.1:n.475-3431G>A
NM_000440.3:c.594G>A MANE Select NP_000431.2:p.Val198=
Search 100 bp 5'
Search 100 bp 3'