Canonical Allele Identifier: CA238610
Gene: PDE6A HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.149944370G>T
GRCh37 chr5:g.149323933G>T
Revel Score:
ENST00000255266 (MANE Select) 0.571
gnomAD v2:
5:149323933 G / T
gnomAD v3:
5:149944370 G / T
gnomAD v4:
chr5-149944370-G-T
Joint Max Group AF 0.00020845 (SAS)
Genomes Max Group AF 0.00028344 (SAS)
Exomes Max Group AF 0.00018204 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149944370G>T , CM000667.2:g.149944370G>T GRCh38
NC_000005.9:g.149323933G>T , CM000667.1:g.149323933G>T GRCh37
NC_000005.8:g.149304126G>T NCBI36
NG_009102.1:g.5424C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255266.10:c.304C>A MANE Select ENSP00000255266.5:p.Arg102Ser
ENST00000255266.9:c.304C>A ENSP00000255266.5:p.Arg102Ser
ENST00000508173.5:n.424C>A
ENST00000613228.1:c.304C>A ENSP00000478060.1:p.Arg102Ser
ENST00000617647.4:c.304C>A ENSP00000482774.1:p.Arg102Ser
NM_000440.2:c.304C>A NP_000431.2:p.Arg102Ser
XM_011537648.1:c.304C>A XP_011535950.1:p.Arg102Ser
XM_011537649.1:c.-72-9652C>A XP_011535951.1:n.-72-9652C>A
XM_017009572.2:c.304C>A XP_016865061.1:p.Arg102Ser
NM_000440.3:c.304C>A MANE Select NP_000431.2:p.Arg102Ser
Search 100 bp 5'
Search 100 bp 3'