Linked Data
ClinVar Variation Id:
11146
ClinVar RCV Id:
RCV000011896
dbSNP Id:
rs104894738
gnomAD v4:
X-11294799-G-C
PubMed:
PMID:15111628
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.11294799G>C , CM000685.2:g.11294799G>C | GRCh38 |
| NC_000023.10:g.11312919G>C , CM000685.1:g.11312919G>C | GRCh37 |
| NC_000023.9:g.11222840G>C | NCBI36 |
| NG_012040.1:g.6387G>C | |
| NG_012494.1:g.375903C>G | |
| NG_012494.2:g.375903C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337414.9:c.589-40092C>G (ARHGAP6) MANE Select | ENSP00000338967.4:n.589-40092C>G | |
| ENST00000337414.8:c.589-40092C>G (ARHGAP6) | ENSP00000338967.4:n.589-40092C>G | |
| ENST00000348912.4:c.11G>C (AMELX) | ENSP00000335312.5:p.Trp4Ser | |
| ENST00000380712.7:c.11G>C (AMELX) | ENSP00000370088.3:p.Trp4Ser | |
| ENST00000380714.7:c.11G>C (AMELX) MANE Select | ENSP00000370090.3:p.Trp4Ser | |
| ENST00000380718.1:c.589-40092C>G (ARHGAP6) | ENSP00000370094.1:n.589-40092C>G | |
| ENST00000380736.5:c.-21-40092C>G (ARHGAP6) | ENSP00000370112.1:n.-21-40092C>G | |
| ENST00000489330.6:n.844-40092C>G (ARHGAP6) | ||
| ENST00000495242.5:c.589-4321C>G (ARHGAP6) | ENSP00000435767.1:n.589-4321C>G | |
| NM_001142.2:c.11G>C (AMELX) MANE Select | NP_001133.1:p.Trp4Ser | |
| NM_001287242.1:c.49-40092C>G (ARHGAP6) | NP_001274171.1:n.49-40092C>G | |
| NM_006125.2:c.589-40092C>G (ARHGAP6) | NP_006116.2:n.589-40092C>G | |
| NM_013427.2:c.589-40092C>G (ARHGAP6) | NP_038286.2:n.589-40092C>G | |
| NM_182680.1:c.11G>C (AMELX) | NP_872621.1:p.Trp4Ser | |
| NM_182681.1:c.11G>C (AMELX) | NP_872622.1:p.Trp4Ser | |
| NR_109776.1:n.1462-4321C>G (ARHGAP6) | ||
| XM_011545489.1:c.11G>C (AMELX) | XP_011543791.1:p.Trp4Ser | |
| XM_017029404.2:c.11G>C (AMELX) | XP_016884893.1:p.Trp4Ser | |
| NM_013427.3:c.589-40092C>G (ARHGAP6) MANE Select | NP_038286.2:n.589-40092C>G | |
| NM_001287242.2:c.49-40092C>G (ARHGAP6) | NP_001274171.1:n.49-40092C>G | |
| NM_006125.3:c.589-40092C>G (ARHGAP6) | NP_006116.2:n.589-40092C>G | |
| NR_109776.2:n.1681-4321C>G (ARHGAP6) |