Canonical Allele Identifier: CA116582

Gene: PRODH

Linked Data

• ClinVar Variation Id: 4013
• ClinVar RCV Id: RCV000004228 ; RCV000004227 ; RCV002225259
• dbSNP Id: rs2870984
• ExAC: 22:18905859 G / A
• gnomAD v2: 22-18905859-G-A
• gnomAD v3: 22-18918346-G-A
• gnomAD v4: 22-18918346-G-A
• MyVariant Identifiers: chr22:g.18905859G>A (hg19) ; chr22:g.18918346G>A (hg38)
• PubMed: PMID:11891283 ; PMID:15662599 ; PMID:17412540 ; PMID:28708303

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18918346G>A , CM000684.2:g.18918346G>A	GRCh38
NC_000022.10:g.18905859G>A , CM000684.1:g.18905859G>A	GRCh37
NC_000022.9:g.17285859G>A	NCBI36
NG_008226.2:g.23208C>T
NG_008226.3:g.23208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1397C>T MANE Select	ENSP00000349577.6:p.Thr466Met
ENST00000638240.1:c.513+7318G>A	ENSP00000492446.1:n.513+7318G>A
ENST00000313755.9:n.2162C>T
ENST00000334029.6:c.1073C>T	ENSP00000334726.2:p.Thr358Met
ENST00000357068.10:c.1397C>T	ENSP00000349577.6:p.Thr466Met
ENST00000420436.5:c.1073C>T	ENSP00000410805.1:p.Thr358Met
ENST00000429300.5:n.1768C>T
ENST00000482858.5:n.3877C>T
ENST00000491604.5:n.2306C>T
ENST00000609229.1:n.2250C>T
ENST00000610940.4:c.1397C>T	ENSP00000480347.1:p.Thr466Met
NM_001195226.1:c.1073C>T	NP_001182155.1:p.Thr358Met
NM_016335.4:c.1397C>T	NP_057419.4:p.Thr466Met
XM_011530278.1:c.824C>T	XP_011528580.1:p.Thr275Met
XM_011530279.1:c.617C>T	XP_011528581.1:p.Thr206Met
XR_937876.1:n.1464C>T
NM_001195226.2:c.1073C>T	NP_001182155.2:p.Thr358Met
NM_016335.5:c.1397C>T	NP_057419.5:p.Thr466Met
NM_016335.6:c.1397C>T MANE Select	NP_057419.5:p.Thr466Met