Linked Data
ClinVar Variation Id:
750785
ClinVar RCV Id:
RCV000927790
dbSNP Id:
rs1597440357
gnomAD v4:
17-8289040-G-A
MyVariant Identifiers:
chr17:g.8192358G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8289040G>A , CM000679.2:g.8289040G>A | GRCh38 |
| NC_000017.10:g.8192358G>A , CM000679.1:g.8192358G>A | GRCh37 |
| NC_000017.9:g.8133083G>A | NCBI36 |
| NG_028189.1:g.5390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226105.11:c.162G>A (RANGRF) MANE Select | ENSP00000226105.6:p.Leu54= | |
| ENST00000226105.10:c.162G>A (RANGRF) | ENSP00000226105.6:p.Leu54= | |
| ENST00000380067.6:c.*576C>T (SLC25A35) | ENSP00000369407.2:n.*576C>T | |
| ENST00000407006.8:c.162G>A (RANGRF) | ENSP00000383940.4:p.Leu54= | |
| ENST00000439238.3:c.162G>A (RANGRF) | ENSP00000413190.3:p.Leu54= | |
| ENST00000578849.1:n.252G>A (RANGRF) | ||
| ENST00000579192.5:c.*42+534C>T (SLC25A35) | ENSP00000462395.1:n.*42+534C>T | |
| ENST00000580340.5:c.*443C>T (SLC25A35) | ENSP00000464071.1:n.*443C>T | |
| ENST00000580434.5:c.162G>A (RANGRF) | ENSP00000462310.1:p.Leu54= | |
| ENST00000580777.1:n.156G>A (RANGRF) | ||
| ENST00000585311.5:c.*488C>T (SLC25A35) | ENSP00000464191.1:n.*488C>T | |
| NM_001177801.1:c.162G>A (RANGRF) | NP_001171272.1:p.Leu54= | |
| NM_001177802.1:c.162G>A (RANGRF) | NP_001171273.1:p.Leu54= | |
| NM_016492.4:c.162G>A (RANGRF) | NP_057576.2:p.Leu54= | |
| NM_201520.1:c.*576C>T (SLC25A35) | NP_958928.1:n.*576C>T | |
| XM_005256618.3:c.162G>A (RANGRF) | XP_005256675.1:p.Leu54= | |
| NM_001320871.1:c.*42+534C>T (SLC25A35) | NP_001307800.1:n.*42+534C>T | |
| NM_001320872.1:c.*443C>T (SLC25A35) | NP_001307801.1:n.*443C>T | |
| NM_001330127.1:c.162G>A (RANGRF) | NP_001317056.1:p.Leu54= | |
| NM_201520.2:c.*576C>T (SLC25A35) | NP_958928.1:n.*576C>T | |
| NR_135484.1:n.1900C>T (SLC25A35) | ||
| NM_016492.5:c.162G>A (RANGRF) MANE Select | NP_057576.2:p.Leu54= | |
| NM_001177801.2:c.162G>A (RANGRF) | NP_001171272.1:p.Leu54= | |
| NM_001177802.2:c.162G>A (RANGRF) | NP_001171273.1:p.Leu54= | |
| NM_001320871.2:c.*42+534C>T (SLC25A35) | NP_001307800.1:n.*42+534C>T | |
| NM_001330127.2:c.162G>A (RANGRF) | NP_001317056.1:p.Leu54= | |
| NM_201520.3:c.*576C>T (SLC25A35) | NP_958928.1:n.*576C>T | |
| NR_135483.2:n.2121C>T (SLC25A35) | ||
| NM_001320872.2:c.*443C>T (SLC25A35) | NP_001307801.1:n.*443C>T | |
| NR_135484.2:n.1957C>T (SLC25A35) |