Canonical Allele Identifier: CA10095508
Gene: PRODH HGNC NCBI
COSMIC:
COSM4135139 (not active)
MyVariant.info:
GRCh38 chr22:g.18936232G>T
GRCh37 chr22:g.18923745G>T
Revel Score:
ENST00000357068 (MANE Select) 0.005
ENST00000457083 0.005
gnomAD v2:
22:18923745 G / T
gnomAD v3:
22:18936232 G / T
gnomAD v4:
chr22-18936232-G-T
Joint Max Group AF 0.17768 (NFE)
Exomes Max Group AF 0.17768 (EAS)
ClinVar RCV:
RCV001519337
RCV001724334
ClinVar Variation:
1168807
dbSNP:
2008720
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18936232G>T , CM000684.2:g.18936232G>T GRCh38
NC_000022.10:g.18923745G>T , CM000684.1:g.18923745G>T GRCh37
NC_000022.9:g.17303745G>T NCBI36
NG_008226.2:g.5322C>A
NG_008226.3:g.5322C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.56C>A MANE Select ENSP00000349577.6:p.Pro19Gln
ENST00000638240.1:c.514-3441G>T ENSP00000492446.1:n.514-3441G>T
ENST00000334029.6:c.-52+158C>A ENSP00000334726.2:n.-52+158C>A
ENST00000357068.10:c.56C>A ENSP00000349577.6:p.Pro19Gln
ENST00000420436.5:c.-97C>A ENSP00000410805.1:n.-97C>A
ENST00000457083.1:c.35C>A
ENST00000491604.5:n.64C>A
ENST00000610940.4:c.56C>A ENSP00000480347.1:p.Pro19Gln
NM_001195226.1:c.-52+158C>A NP_001182155.1:n.-52+158C>A
NM_016335.4:c.56C>A NP_057419.4:p.Pro19Gln
XM_011530278.1:c.-453C>A XP_011528580.1:n.-453C>A
XR_937876.1:n.89C>A
NM_001195226.2:c.-52+158C>A NP_001182155.2:n.-52+158C>A
NM_016335.5:c.56C>A NP_057419.5:p.Pro19Gln
NM_016335.6:c.56C>A MANE Select NP_057419.5:p.Pro19Gln
Search 100 bp 5'
Search 100 bp 3'