Canonical Allele Identifier: CA10094958
Gene: PRODH HGNC NCBI
COSMIC:
COSM5436575 (not active)
MyVariant.info:
GRCh38 chr22:g.18918329C>T
GRCh37 chr22:g.18905842C>T
GRCh37 chr22:g.18905842_18905845delinsTGTT
Revel Score:
ENST00000357068 (MANE Select) 0.064
ENST00000313755 0.064
gnomAD v2:
22:18905842 C / T
gnomAD v3:
22:18918329 C / T
gnomAD v4:
chr22-18918329-C-T
Joint Max Group AF 0.07239701 (NFE)
Genomes Max Group AF 0.07187328 (NFE)
Exomes Max Group AF 0.07194682 (NFE)
ClinVar RCV:
RCV001519333
RCV001724333
ClinVar Variation:
1168804
dbSNP:
2870983
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18918329C>T , CM000684.2:g.18918329C>T GRCh38
NC_000022.10:g.18905842C>T , CM000684.1:g.18905842C>T GRCh37
NC_000022.9:g.17285842C>T NCBI36
NG_008226.2:g.23225G>A
NG_008226.3:g.23225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.1414G>A MANE Select ENSP00000349577.6:p.Ala472Thr
ENST00000638240.1:c.513+7301C>T ENSP00000492446.1:n.513+7301C>T
ENST00000313755.9:n.2179G>A
ENST00000334029.6:c.1090G>A ENSP00000334726.2:p.Ala364Thr
ENST00000357068.10:c.1414G>A ENSP00000349577.6:p.Ala472Thr
ENST00000420436.5:c.1090G>A ENSP00000410805.1:p.Ala364Thr
ENST00000429300.5:n.1785G>A
ENST00000482858.5:n.3894G>A
ENST00000491604.5:n.2323G>A
ENST00000609229.1:n.2267G>A
ENST00000610940.4:c.1414G>A ENSP00000480347.1:p.Ala472Thr
NM_001195226.1:c.1090G>A NP_001182155.1:p.Ala364Thr
NM_016335.4:c.1414G>A NP_057419.4:p.Ala472Thr
XM_011530278.1:c.841G>A XP_011528580.1:p.Ala281Thr
XM_011530279.1:c.634G>A XP_011528581.1:p.Ala212Thr
XR_937876.1:n.1481G>A
NM_001195226.2:c.1090G>A NP_001182155.2:p.Ala364Thr
NM_016335.5:c.1414G>A NP_057419.5:p.Ala472Thr
NM_016335.6:c.1414G>A MANE Select NP_057419.5:p.Ala472Thr
Search 100 bp 5'
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