Canonical Allele Identifier: CA10095052

Gene: PRODH

Linked Data

• ClinVar Variation Id: 459908
• ClinVar RCV Id: RCV000537635 ; RCV002483383
• dbSNP Id: rs147233639
• ExAC: 22:18907052 G / A
• gnomAD v2: 22-18907052-G-A
• gnomAD v3: 22-18919539-G-A
• gnomAD v4: 22-18919539-G-A
• MyVariant Identifiers: chr22:g.18907052G>A (hg19) ; chr22:g.18919539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18919539G>A , CM000684.2:g.18919539G>A	GRCh38
NC_000022.10:g.18907052G>A , CM000684.1:g.18907052G>A	GRCh37
NC_000022.9:g.17287052G>A	NCBI36
NG_008226.2:g.22015C>T
NG_008226.3:g.22015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1163C>T MANE Select	ENSP00000349577.6:p.Pro388Leu
ENST00000638240.1:c.513+8511G>A	ENSP00000492446.1:n.513+8511G>A
ENST00000313755.9:n.1928C>T
ENST00000334029.6:c.839C>T	ENSP00000334726.2:p.Pro280Leu
ENST00000357068.10:c.1163C>T	ENSP00000349577.6:p.Pro388Leu
ENST00000420436.5:c.839C>T	ENSP00000410805.1:p.Pro280Leu
ENST00000429300.5:n.1534C>T
ENST00000482858.5:n.3643C>T
ENST00000491604.5:n.2072C>T
ENST00000609229.1:n.2016C>T
ENST00000610940.4:c.1163C>T	ENSP00000480347.1:p.Pro388Leu
NM_001195226.1:c.839C>T	NP_001182155.1:p.Pro280Leu
NM_016335.4:c.1163C>T	NP_057419.4:p.Pro388Leu
XM_011530278.1:c.590C>T	XP_011528580.1:p.Pro197Leu
XM_011530279.1:c.383C>T	XP_011528581.1:p.Pro128Leu
XR_937876.1:n.1230C>T
NM_001195226.2:c.839C>T	NP_001182155.2:p.Pro280Leu
NM_016335.5:c.1163C>T	NP_057419.5:p.Pro388Leu
NM_016335.6:c.1163C>T MANE Select	NP_057419.5:p.Pro388Leu