Linked Data
ClinVar Variation Id:
525318
ClinVar RCV Id:
RCV000629371
dbSNP Id:
rs1437893220
gnomAD v3:
6-38917951-G-A
gnomAD v4:
6-38917951-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38917951G>A , CM000668.2:g.38917951G>A | GRCh38 |
| NC_000006.11:g.38885727G>A , CM000668.1:g.38885727G>A | GRCh37 |
| NC_000006.10:g.38993705G>A | NCBI36 |
| NG_041805.1:g.207611G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.10335G>A (DNAH8) MANE Select | ENSP00000333363.7:p.Trp3445Ter | |
| ENST00000327475.10:c.10335G>A (DNAH8) | ENSP00000333363.7:p.Trp3445Ter | |
| ENST00000359357.7:c.9684G>A (DNAH8) | ENSP00000352312.3:p.Trp3228Ter | |
| ENST00000449981.6:c.10335G>A (DNAH8) | ENSP00000415331.2:p.Trp3445Ter | |
| NM_001206927.1:c.10335G>A (DNAH8) | NP_001193856.1:p.Trp3445Ter | |
| NR_038401.1:n.782+5134C>T (DNAH8-AS1) | ||
| XM_011514318.1:c.10272G>A (DNAH8) | XP_011512620.1:p.Trp3424Ter | |
| XM_011514319.1:c.10227G>A (DNAH8) | XP_011512621.1:p.Trp3409Ter | |
| XM_011514320.1:c.10098G>A (DNAH8) | XP_011512622.1:p.Trp3366Ter | |
| XM_011514321.1:c.9684G>A (DNAH8) | XP_011512623.1:p.Trp3228Ter | |
| XR_926078.1:n.10452G>A (DNAH8) | ||
| NM_001371.3:c.9684G>A (DNAH8) | NP_001362.2:p.Trp3228Ter | |
| XM_011514318.2:c.10272G>A (DNAH8) | XP_011512620.1:p.Trp3424Ter | |
| XM_011514319.2:c.10227G>A (DNAH8) | XP_011512621.1:p.Trp3409Ter | |
| XM_011514320.2:c.10098G>A (DNAH8) | XP_011512622.1:p.Trp3366Ter | |
| XM_017010325.1:c.10335G>A (DNAH8) | XP_016865814.1:p.Trp3445Ter | |
| XM_017010326.1:c.10335G>A (DNAH8) | XP_016865815.1:p.Trp3445Ter | |
| XR_926078.2:n.10455G>A (DNAH8) | ||
| NM_001206927.2:c.10335G>A (DNAH8) MANE Select | NP_001193856.1:p.Trp3445Ter | |
| NM_001371.4:c.9684G>A (DNAH8) | NP_001362.2:p.Trp3228Ter |