Canonical Allele Identifier: CA410637556

Gene: PRODH DGCR6

Linked Data

• gnomAD v4: 22-18913196-G-T
• MyVariant Identifiers: chr22:g.18900709G>T (hg19) ; chr22:g.18913196G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913196G>T , CM000684.2:g.18913196G>T	GRCh38
NC_000022.10:g.18900709G>T , CM000684.1:g.18900709G>T	GRCh37
NC_000022.9:g.17280709G>T	NCBI36
NG_008226.2:g.28358C>A
NG_009052.1:g.11974G>T
NG_008226.3:g.28358C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1782C>A (PRODH) MANE Select	ENSP00000349577.6:p.Asn594Lys
ENST00000638240.1:c.513+2168G>T	ENSP00000492446.1:n.513+2168G>T
ENST00000313755.9:n.2547C>A (PRODH)
ENST00000334029.6:c.1458C>A (PRODH)	ENSP00000334726.2:p.Asn486Lys
ENST00000357068.10:c.1782C>A (PRODH)	ENSP00000349577.6:p.Asn594Lys
ENST00000420436.5:c.1458C>A (PRODH)	ENSP00000410805.1:p.Asn486Lys
ENST00000429300.5:n.2153C>A (PRODH)
ENST00000482858.5:n.4262C>A (PRODH)
ENST00000483718.5:c.*1838G>T (DGCR6)	ENSP00000467483.1:n.*1838G>T
ENST00000491604.5:n.2691C>A (PRODH)
ENST00000610940.4:c.1782C>A (PRODH)	ENSP00000480347.1:p.Asn594Lys
NM_001195226.1:c.1458C>A (PRODH)	NP_001182155.1:p.Asn486Lys
NM_016335.4:c.1782C>A (PRODH)	NP_057419.4:p.Asn594Lys
XM_011530278.1:c.1209C>A (PRODH)	XP_011528580.1:p.Asn403Lys
XM_011530279.1:c.1002C>A (PRODH)	XP_011528581.1:p.Asn334Lys
XR_937876.1:n.1849C>A (PRODH)
NM_005675.5:c.*1507G>T (DGCR6)	NP_005666.2:n.*1507G>T
NM_001195226.2:c.1458C>A (PRODH)	NP_001182155.2:p.Asn486Lys
NM_016335.5:c.1782C>A (PRODH)	NP_057419.5:p.Asn594Lys
NM_016335.6:c.1782C>A (PRODH) MANE Select	NP_057419.5:p.Asn594Lys