Canonical Allele Identifier: CA321313702

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs1040529278
• gnomAD v2: 22-18900567-C-G
• MyVariant Identifiers: chr22:g.18900567C>G (hg19) ; chr22:g.18913054C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913054C>G , CM000684.2:g.18913054C>G	GRCh38
NC_000022.10:g.18900567C>G , CM000684.1:g.18900567C>G	GRCh37
NC_000022.9:g.17280567C>G	NCBI36
NG_008226.2:g.28500G>C
NG_009052.1:g.11832C>G
NG_008226.3:g.28500G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.*121G>C (PRODH) MANE Select	ENSP00000349577.6:n.*121G>C
ENST00000638240.1:c.513+2026C>G	ENSP00000492446.1:n.513+2026C>G
ENST00000313755.9:n.2689G>C (PRODH)
ENST00000334029.6:c.*121G>C (PRODH)	ENSP00000334726.2:n.*121G>C
ENST00000357068.10:c.*121G>C (PRODH)	ENSP00000349577.6:n.*121G>C
ENST00000420436.5:c.*121G>C (PRODH)	ENSP00000410805.1:n.*121G>C
ENST00000429300.5:n.2295G>C (PRODH)
ENST00000482858.5:n.4404G>C (PRODH)
ENST00000483718.5:c.*1696C>G (DGCR6)	ENSP00000467483.1:n.*1696C>G
ENST00000491604.5:n.2833G>C (PRODH)
ENST00000610940.4:c.*121G>C (PRODH)	ENSP00000480347.1:n.*121G>C
NM_001195226.1:c.*121G>C (PRODH)	NP_001182155.1:n.*121G>C
NM_016335.4:c.*121G>C (PRODH)	NP_057419.4:n.*121G>C
XM_011530278.1:c.*121G>C (PRODH)	XP_011528580.1:n.*121G>C
XM_011530279.1:c.*121G>C (PRODH)	XP_011528581.1:n.*121G>C
XR_937876.1:n.1991G>C (PRODH)
NM_005675.5:c.*1365C>G (DGCR6)	NP_005666.2:n.*1365C>G
NM_001195226.2:c.*121G>C (PRODH)	NP_001182155.2:n.*121G>C
NM_016335.5:c.*121G>C (PRODH)	NP_057419.5:n.*121G>C
NM_016335.6:c.*121G>C (PRODH) MANE Select	NP_057419.5:n.*121G>C