Canonical Allele Identifier: CA410639068

Gene: PRODH DGCR6

Linked Data

• MyVariant Identifiers: chr22:g.18901007T>A (hg19) ; chr22:g.18913494T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913494T>A , CM000684.2:g.18913494T>A	GRCh38
NC_000022.10:g.18901007T>A , CM000684.1:g.18901007T>A	GRCh37
NC_000022.9:g.17281007T>A	NCBI36
NG_008226.2:g.28060A>T
NG_009052.1:g.12272T>A
NG_008226.3:g.28060A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1559A>T (PRODH) MANE Select	ENSP00000349577.6:p.His520Leu
ENST00000638240.1:c.513+2466T>A	ENSP00000492446.1:n.513+2466T>A
ENST00000313755.9:n.2324A>T (PRODH)
ENST00000334029.6:c.1235A>T (PRODH)	ENSP00000334726.2:p.His412Leu
ENST00000357068.10:c.1559A>T (PRODH)	ENSP00000349577.6:p.His520Leu
ENST00000420436.5:c.1235A>T (PRODH)	ENSP00000410805.1:p.His412Leu
ENST00000429300.5:n.1930A>T (PRODH)
ENST00000482858.5:n.4039A>T (PRODH)
ENST00000483718.5:c.*2136T>A (DGCR6)	ENSP00000467483.1:n.*2136T>A
ENST00000491604.5:n.2468A>T (PRODH)
ENST00000610940.4:c.1559A>T (PRODH)	ENSP00000480347.1:p.His520Leu
NM_001195226.1:c.1235A>T (PRODH)	NP_001182155.1:p.His412Leu
NM_016335.4:c.1559A>T (PRODH)	NP_057419.4:p.His520Leu
XM_011530278.1:c.986A>T (PRODH)	XP_011528580.1:p.His329Leu
XM_011530279.1:c.779A>T (PRODH)	XP_011528581.1:p.His260Leu
XR_937876.1:n.1626A>T (PRODH)
NM_005675.5:c.*1805T>A (DGCR6)	NP_005666.2:n.*1805T>A
NM_001195226.2:c.1235A>T (PRODH)	NP_001182155.2:p.His412Leu
NM_016335.5:c.1559A>T (PRODH)	NP_057419.5:p.His520Leu
NM_016335.6:c.1559A>T (PRODH) MANE Select	NP_057419.5:p.His520Leu