Linked Data
dbSNP Id:
rs383964
gnomAD v4:
22-18913156-A-T
MyVariant Identifiers:
chr22:g.18913156A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18913156A>T , CM000684.2:g.18913156A>T | GRCh38 |
| NC_000022.10:g.18900669A>T , CM000684.1:g.18900669A>T | GRCh37 |
| NC_000022.9:g.17280669A>T | NCBI36 |
| NG_008226.2:g.28398T>A | |
| NG_009052.1:g.11934A>T | |
| NG_008226.3:g.28398T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.*19T>A (PRODH) MANE Select | ENSP00000349577.6:n.*19T>A | |
| ENST00000638240.1:c.513+2128A>T | ENSP00000492446.1:n.513+2128A>T | |
| ENST00000313755.9:n.2587T>A (PRODH) | ||
| ENST00000334029.6:c.*19T>A (PRODH) | ENSP00000334726.2:n.*19T>A | |
| ENST00000357068.10:c.*19T>A (PRODH) | ENSP00000349577.6:n.*19T>A | |
| ENST00000420436.5:c.*19T>A (PRODH) | ENSP00000410805.1:n.*19T>A | |
| ENST00000429300.5:n.2193T>A (PRODH) | ||
| ENST00000482858.5:n.4302T>A (PRODH) | ||
| ENST00000483718.5:c.*1798A>T (DGCR6) | ENSP00000467483.1:n.*1798A>T | |
| ENST00000491604.5:n.2731T>A (PRODH) | ||
| ENST00000610940.4:c.*19T>A (PRODH) | ENSP00000480347.1:n.*19T>A | |
| NM_001195226.1:c.*19T>A (PRODH) | NP_001182155.1:n.*19T>A | |
| NM_016335.4:c.*19T>A (PRODH) | NP_057419.4:n.*19T>A | |
| XM_011530278.1:c.*19T>A (PRODH) | XP_011528580.1:n.*19T>A | |
| XM_011530279.1:c.*19T>A (PRODH) | XP_011528581.1:n.*19T>A | |
| XR_937876.1:n.1889T>A (PRODH) | ||
| NM_005675.5:c.*1467A>T (DGCR6) | NP_005666.2:n.*1467A>T | |
| NM_001195226.2:c.*19T>A (PRODH) | NP_001182155.2:n.*19T>A | |
| NM_016335.5:c.*19T>A (PRODH) | NP_057419.5:n.*19T>A | |
| NM_016335.6:c.*19T>A (PRODH) MANE Select | NP_057419.5:n.*19T>A |