Canonical Allele Identifier: CA638502682

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs1354350688
• gnomAD v2: 22-18900672-G-A
• MyVariant Identifiers: chr22:g.18900672G>A (hg19) ; chr22:g.18913159G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913159G>A , CM000684.2:g.18913159G>A	GRCh38
NC_000022.10:g.18900672G>A , CM000684.1:g.18900672G>A	GRCh37
NC_000022.9:g.17280672G>A	NCBI36
NG_008226.2:g.28395C>T
NG_009052.1:g.11937G>A
NG_008226.3:g.28395C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.*16C>T (PRODH) MANE Select	ENSP00000349577.6:n.*16C>T
ENST00000638240.1:c.513+2131G>A	ENSP00000492446.1:n.513+2131G>A
ENST00000313755.9:n.2584C>T (PRODH)
ENST00000334029.6:c.*16C>T (PRODH)	ENSP00000334726.2:n.*16C>T
ENST00000357068.10:c.*16C>T (PRODH)	ENSP00000349577.6:n.*16C>T
ENST00000420436.5:c.*16C>T (PRODH)	ENSP00000410805.1:n.*16C>T
ENST00000429300.5:n.2190C>T (PRODH)
ENST00000482858.5:n.4299C>T (PRODH)
ENST00000483718.5:c.*1801G>A (DGCR6)	ENSP00000467483.1:n.*1801G>A
ENST00000491604.5:n.2728C>T (PRODH)
ENST00000610940.4:c.*16C>T (PRODH)	ENSP00000480347.1:n.*16C>T
NM_001195226.1:c.*16C>T (PRODH)	NP_001182155.1:n.*16C>T
NM_016335.4:c.*16C>T (PRODH)	NP_057419.4:n.*16C>T
XM_011530278.1:c.*16C>T (PRODH)	XP_011528580.1:n.*16C>T
XM_011530279.1:c.*16C>T (PRODH)	XP_011528581.1:n.*16C>T
XR_937876.1:n.1886C>T (PRODH)
NM_005675.5:c.*1470G>A (DGCR6)	NP_005666.2:n.*1470G>A
NM_001195226.2:c.*16C>T (PRODH)	NP_001182155.2:n.*16C>T
NM_016335.5:c.*16C>T (PRODH)	NP_057419.5:n.*16C>T
NM_016335.6:c.*16C>T (PRODH) MANE Select	NP_057419.5:n.*16C>T