Canonical Allele Identifier: CA145993
Gene: PDE6B HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.635913T>C
GRCh37 chr4:g.629702T>C
Revel Score:
ENST00000255622 0.359
ENST00000496514 (MANE Select) 0.359
gnomAD v2:
4:629702 T / C
gnomAD v3:
4:635913 T / C
gnomAD v4:
chr4-635913-T-C
Joint Max Group AF 0.0080534 (NFE)
Genomes Max Group AF 0.00755239 (NFE)
Exomes Max Group AF 0.00805364 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.635913T>C , CM000666.2:g.635913T>C GRCh38
NC_000004.11:g.629702T>C , CM000666.1:g.629702T>C GRCh37
NC_000004.10:g.619702T>C NCBI36
NG_009839.1:g.15340T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.655T>C MANE Select ENSP00000420295.1:p.Tyr219His
ENST00000255622.10:c.655T>C ENSP00000255622.6:p.Tyr219His
ENST00000496514.5:c.655T>C ENSP00000420295.1:p.Tyr219His
NM_000283.3:c.655T>C NP_000274.2:p.Tyr219His
NM_001145291.1:c.655T>C NP_001138763.1:p.Tyr219His
XM_011513473.1:c.874T>C XP_011511775.1:p.Tyr292His
XM_011513474.1:c.874T>C XP_011511776.1:p.Tyr292His
XM_011513475.1:c.655T>C XP_011511777.1:p.Tyr219His
XM_011513476.1:c.874T>C XP_011511778.1:p.Tyr292His
XM_011513473.3:c.874T>C XP_011511775.1:p.Tyr292His
XM_011513474.3:c.874T>C XP_011511776.1:p.Tyr292His
XM_011513475.2:c.655T>C XP_011511777.1:p.Tyr219His
XM_011513476.3:c.874T>C XP_011511778.1:p.Tyr292His
NM_000283.4:c.655T>C MANE Select NP_000274.3:p.Tyr219His
NM_001145291.2:c.655T>C NP_001138763.2:p.Tyr219His
Search 100 bp 5'
Search 100 bp 3'