Linked Data
ClinVar Variation Id:
454609
ClinVar RCV Id:
RCV000535093
dbSNP Id:
rs1554132747
gnomAD v4:
6-38907955-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38907955G>T , CM000668.2:g.38907955G>T | GRCh38 |
| NC_000006.11:g.38875731G>T , CM000668.1:g.38875731G>T | GRCh37 |
| NC_000006.10:g.38983709G>T | NCBI36 |
| NG_041805.1:g.197615G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.9349-1G>T (DNAH8) MANE Select | ENSP00000333363.7:n.9349-1G>T | |
| ENST00000327475.10:c.9349-1G>T (DNAH8) | ENSP00000333363.7:n.9349-1G>T | |
| ENST00000359357.7:c.8698-1G>T (DNAH8) | ENSP00000352312.3:n.8698-1G>T | |
| ENST00000449981.6:c.9349-1G>T (DNAH8) | ENSP00000415331.2:n.9349-1G>T | |
| NM_001206927.1:c.9349-1G>T (DNAH8) | NP_001193856.1:n.9349-1G>T | |
| NR_038401.1:n.783-118C>A (DNAH8-AS1) | ||
| XM_011514318.1:c.9286-1G>T (DNAH8) | XP_011512620.1:n.9286-1G>T | |
| XM_011514319.1:c.9241-1G>T (DNAH8) | XP_011512621.1:n.9241-1G>T | |
| XM_011514320.1:c.9112-1G>T (DNAH8) | XP_011512622.1:n.9112-1G>T | |
| XM_011514321.1:c.8698-1G>T (DNAH8) | XP_011512623.1:n.8698-1G>T | |
| XR_926078.1:n.9466-1G>T (DNAH8) | ||
| NM_001371.3:c.8698-1G>T (DNAH8) | NP_001362.2:n.8698-1G>T | |
| XM_011514318.2:c.9286-1G>T (DNAH8) | XP_011512620.1:n.9286-1G>T | |
| XM_011514319.2:c.9241-1G>T (DNAH8) | XP_011512621.1:n.9241-1G>T | |
| XM_011514320.2:c.9112-1G>T (DNAH8) | XP_011512622.1:n.9112-1G>T | |
| XM_017010325.1:c.9349-1G>T (DNAH8) | XP_016865814.1:n.9349-1G>T | |
| XM_017010326.1:c.9349-1G>T (DNAH8) | XP_016865815.1:n.9349-1G>T | |
| XR_926078.2:n.9469-1G>T (DNAH8) | ||
| NM_001206927.2:c.9349-1G>T (DNAH8) MANE Select | NP_001193856.1:n.9349-1G>T | |
| NM_001371.4:c.8698-1G>T (DNAH8) | NP_001362.2:n.8698-1G>T |