Canonical Allele Identifier: CA116574

Gene: PRODH

Linked Data

• ClinVar Variation Id: 4008
• ClinVar RCV Id: RCV000004219 ; RCV000004218 ; RCV000412946 ; RCV002512743
• dbSNP Id: rs2904551
• ExAC: 22:18905934 A / G
• gnomAD v2: 22-18905934-A-G
• gnomAD v3: 22-18918421-A-G
• gnomAD v4: 22-18918421-A-G
• MyVariant Identifiers: chr22:g.18905934A>G (hg19) ; chr22:g.18918421A>G (hg38)
• PubMed: PMID:11510941 ; PMID:12217952 ; PMID:15662599

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18918421A>G , CM000684.2:g.18918421A>G	GRCh38
NC_000022.10:g.18905934A>G , CM000684.1:g.18905934A>G	GRCh37
NC_000022.9:g.17285934A>G	NCBI36
NG_008226.2:g.23133T>C
NG_008226.3:g.23133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1322T>C MANE Select	ENSP00000349577.6:p.Leu441Pro
ENST00000638240.1:c.513+7393A>G	ENSP00000492446.1:n.513+7393A>G
ENST00000313755.9:n.2087T>C
ENST00000334029.6:c.998T>C	ENSP00000334726.2:p.Leu333Pro
ENST00000357068.10:c.1322T>C	ENSP00000349577.6:p.Leu441Pro
ENST00000420436.5:c.998T>C	ENSP00000410805.1:p.Leu333Pro
ENST00000429300.5:n.1693T>C
ENST00000482858.5:n.3802T>C
ENST00000491604.5:n.2231T>C
ENST00000609229.1:n.2175T>C
ENST00000610940.4:c.1322T>C	ENSP00000480347.1:p.Leu441Pro
NM_001195226.1:c.998T>C	NP_001182155.1:p.Leu333Pro
NM_016335.4:c.1322T>C	NP_057419.4:p.Leu441Pro
XM_011530278.1:c.749T>C	XP_011528580.1:p.Leu250Pro
XM_011530279.1:c.542T>C	XP_011528581.1:p.Leu181Pro
XR_937876.1:n.1389T>C
NM_001195226.2:c.998T>C	NP_001182155.2:p.Leu333Pro
NM_016335.5:c.1322T>C	NP_057419.5:p.Leu441Pro
NM_016335.6:c.1322T>C MANE Select	NP_057419.5:p.Leu441Pro