Linked Data
ClinVar Variation Id:
2608
ClinVar RCV Id:
RCV000002726
dbSNP Id:
rs104894549
ExAC:
17:3397663 C / A
gnomAD v2:
17-3397663-C-A
gnomAD v3:
17-3494369-C-A
gnomAD v4:
17-3494369-C-A
PubMed:
PMID:7668285
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3494369C>A , CM000679.2:g.3494369C>A | GRCh38 |
| NC_000017.10:g.3397663C>A , CM000679.1:g.3397663C>A | GRCh37 |
| NC_000017.9:g.3344413C>A | NCBI36 |
| NG_008399.1:g.25260C>A | |
| NG_008399.2:g.25724C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263080.3:c.654C>A (ASPA) MANE Select | ENSP00000263080.2:p.Cys218Ter | |
| ENST00000263080.2:c.654C>A (ASPA) | ENSP00000263080.2:p.Cys218Ter | |
| ENST00000456349.6:c.654C>A (ASPA) | ENSP00000409976.2:p.Cys218Ter | |
| ENST00000541913.5:c.-74+19043G>T (SPATA22) | ENSP00000441920.1:n.-74+19043G>T | |
| ENST00000570318.1:c.-74+19242G>T (SPATA22) | ENSP00000459147.1:n.-74+19242G>T | |
| NM_000049.2:c.654C>A (ASPA) | NP_000040.1:p.Cys218Ter | |
| NM_001128085.1:c.654C>A (ASPA) | NP_001121557.1:p.Cys218Ter | |
| XM_005256829.1:c.-74+19043G>T (SPATA22) | XP_005256886.1:n.-74+19043G>T | |
| XM_005256830.1:c.-74+19043G>T (SPATA22) | XP_005256887.1:n.-74+19043G>T | |
| XM_006721527.2:c.654C>A (ASPA) | XP_006721590.1:p.Cys218Ter | |
| XR_934026.1:n.829C>A (ASPA) | ||
| NM_001321336.1:c.-74+19043G>T (SPATA22) | NP_001308265.1:n.-74+19043G>T | |
| NM_001321337.1:c.-74+19043G>T (SPATA22) | NP_001308266.1:n.-74+19043G>T | |
| XM_017024661.1:c.654C>A (ASPA) | XP_016880150.1:p.Cys218Ter | |
| XM_024450764.1:c.654C>A (ASPA) | XP_024306532.1:p.Cys218Ter | |
| XR_934026.2:n.829C>A (ASPA) | ||
| NM_000049.3:c.654C>A (ASPA) | NP_000040.1:p.Cys218Ter | |
| NM_000049.4:c.654C>A (ASPA) MANE Select | NP_000040.1:p.Cys218Ter | |
| NM_001321336.2:c.-74+19043G>T (SPATA22) | NP_001308265.1:n.-74+19043G>T | |
| NM_001321337.2:c.-74+19043G>T (SPATA22) | NP_001308266.1:n.-74+19043G>T |