Canonical Allele Identifier: CA10095350
Gene: PRODH HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.18925165A>G
GRCh37 chr22:g.18912678A>G
Revel Score:
ENST00000457083 0.076
ENST00000357068 (MANE Select) 0.124
ENST00000438924 0.124
ENST00000450579 0.124
gnomAD v2:
22:18912678 A / G
gnomAD v3:
22:18925165 A / G
gnomAD v4:
chr22-18925165-A-G
Joint Max Group AF 0.00061019 (AMR)
Exomes Max Group AF 0.00063125 (AMR)
ClinVar RCV:
RCV001519335
ClinVar Variation:
1168806
dbSNP:
4819756
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18925165A>G , CM000684.2:g.18925165A>G GRCh38
NC_000022.10:g.18912678A>G , CM000684.1:g.18912678A>G GRCh37
NC_000022.9:g.17292678A>G NCBI36
NG_008226.3:g.16389T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.553T>C MANE Select ENSP00000349577.6:p.Trp185Arg
ENST00000638240.1:c.513+14137A>G ENSP00000492446.1:n.513+14137A>G
ENST00000334029.6:c.229T>C ENSP00000334726.2:p.Trp77Arg
ENST00000357068.10:c.553T>C ENSP00000349577.6:p.Trp185Arg
ENST00000420436.5:c.229T>C ENSP00000410805.1:p.Trp77Arg
ENST00000438924.5:c.199T>C
ENST00000450579.1:c.76T>C ENSP00000396806.1:p.Trp26Arg
ENST00000457083.1:c.323T>C
ENST00000482858.5:n.408T>C
ENST00000491604.5:n.561T>C
ENST00000496625.1:n.192T>C
ENST00000610940.4:c.553T>C ENSP00000480347.1:p.Trp185Arg
XM_011530278.1:c.45T>C XP_011528580.1:p.Thr15=
XR_937876.1:n.586T>C
NM_001195226.2:c.229T>C NP_001182155.2:p.Trp77Arg
NM_016335.5:c.553T>C NP_057419.5:p.Trp185Arg
NM_016335.6:c.553T>C MANE Select NP_057419.5:p.Trp185Arg
Search 100 bp 5'
Search 100 bp 3'