Linked Data
ClinVar Variation Id:
701114
dbSNP Id:
rs138062143
ExAC:
17:3402298 C / T
gnomAD v2:
17-3402298-C-T
gnomAD v3:
17-3499004-C-T
gnomAD v4:
17-3499004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3499004C>T , CM000679.2:g.3499004C>T | GRCh38 |
| NC_000017.10:g.3402298C>T , CM000679.1:g.3402298C>T | GRCh37 |
| NC_000017.9:g.3349048C>T | NCBI36 |
| NG_008399.1:g.29895C>T | |
| NG_008399.2:g.30359C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263080.3:c.858C>T (ASPA) MANE Select | ENSP00000263080.2:p.Ala286= | |
| ENST00000263080.2:c.858C>T (ASPA) | ENSP00000263080.2:p.Ala286= | |
| ENST00000456349.6:c.858C>T (ASPA) | ENSP00000409976.2:p.Ala286= | |
| ENST00000541913.5:c.-74+14408G>A (SPATA22) | ENSP00000441920.1:n.-74+14408G>A | |
| ENST00000570318.1:c.-74+14607G>A (SPATA22) | ENSP00000459147.1:n.-74+14607G>A | |
| NM_000049.2:c.858C>T (ASPA) | NP_000040.1:p.Ala286= | |
| NM_001128085.1:c.858C>T (ASPA) | NP_001121557.1:p.Ala286= | |
| XM_005256829.1:c.-74+14408G>A (SPATA22) | XP_005256886.1:n.-74+14408G>A | |
| XM_005256830.1:c.-74+14408G>A (SPATA22) | XP_005256887.1:n.-74+14408G>A | |
| XM_006721527.2:c.858C>T (ASPA) | XP_006721590.1:p.Ala286= | |
| NM_001321336.1:c.-74+14408G>A (SPATA22) | NP_001308265.1:n.-74+14408G>A | |
| NM_001321337.1:c.-74+14408G>A (SPATA22) | NP_001308266.1:n.-74+14408G>A | |
| XM_017024661.1:c.858C>T (ASPA) | XP_016880150.1:p.Ala286= | |
| XM_024450764.1:c.858C>T (ASPA) | XP_024306532.1:p.Ala286= | |
| XR_934026.2:n.1125C>T (ASPA) | ||
| NM_000049.3:c.858C>T (ASPA) | NP_000040.1:p.Ala286= | |
| NM_000049.4:c.858C>T (ASPA) MANE Select | NP_000040.1:p.Ala286= | |
| NM_001321336.2:c.-74+14408G>A (SPATA22) | NP_001308265.1:n.-74+14408G>A | |
| NM_001321337.2:c.-74+14408G>A (SPATA22) | NP_001308266.1:n.-74+14408G>A |