Canonical Allele Identifier: CA638324626

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs1180213067
• gnomAD v2: 22-18900917-C-T
• MyVariant Identifiers: chr22:g.18900917C>T (hg19) ; chr22:g.18913404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913404C>T , CM000684.2:g.18913404C>T	GRCh38
NC_000022.10:g.18900917C>T , CM000684.1:g.18900917C>T	GRCh37
NC_000022.9:g.17280917C>T	NCBI36
NG_008226.2:g.28150G>A
NG_009052.1:g.12182C>T
NG_008226.3:g.28150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1615+34G>A (PRODH) MANE Select	ENSP00000349577.6:n.1615+34G>A
ENST00000638240.1:c.513+2376C>T	ENSP00000492446.1:n.513+2376C>T
ENST00000313755.9:n.2380+34G>A (PRODH)
ENST00000334029.6:c.1291+34G>A (PRODH)	ENSP00000334726.2:n.1291+34G>A
ENST00000357068.10:c.1615+34G>A (PRODH)	ENSP00000349577.6:n.1615+34G>A
ENST00000420436.5:c.1291+34G>A (PRODH)	ENSP00000410805.1:n.1291+34G>A
ENST00000429300.5:n.1986+34G>A (PRODH)
ENST00000482858.5:n.4095+34G>A (PRODH)
ENST00000483718.5:c.*2046C>T (DGCR6)	ENSP00000467483.1:n.*2046C>T
ENST00000491604.5:n.2524+34G>A (PRODH)
ENST00000610940.4:c.1615+34G>A (PRODH)	ENSP00000480347.1:n.1615+34G>A
NM_001195226.1:c.1291+34G>A (PRODH)	NP_001182155.1:n.1291+34G>A
NM_016335.4:c.1615+34G>A (PRODH)	NP_057419.4:n.1615+34G>A
XM_011530278.1:c.1042+34G>A (PRODH)	XP_011528580.1:n.1042+34G>A
XM_011530279.1:c.835+34G>A (PRODH)	XP_011528581.1:n.835+34G>A
XR_937876.1:n.1682+34G>A (PRODH)
NM_005675.5:c.*1715C>T (DGCR6)	NP_005666.2:n.*1715C>T
NM_001195226.2:c.1291+34G>A (PRODH)	NP_001182155.2:n.1291+34G>A
NM_016335.5:c.1615+34G>A (PRODH)	NP_057419.5:n.1615+34G>A
NM_016335.6:c.1615+34G>A (PRODH) MANE Select	NP_057419.5:n.1615+34G>A