Linked Data
ClinVar Variation Id:
208505
dbSNP Id:
rs9384
gnomAD v2:
19-13010643-G-T
gnomAD v3:
19-12899829-G-T
gnomAD v4:
19-12899829-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12899829G>T , CM000681.2:g.12899829G>T | GRCh38 |
| NC_000019.9:g.13010643G>T , CM000681.1:g.13010643G>T | GRCh37 |
| NC_000019.8:g.12871643G>T | NCBI36 |
| NG_009292.1:g.13670G>T | |
| NG_033049.1:g.24444C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222214.10:c.*288G>T (GCDH) MANE Select | ENSP00000222214.4:n.*288G>T | |
| ENST00000293695.8:c.612+175C>A (SYCE2) MANE Select | ENSP00000293695.6:n.612+175C>A | |
| ENST00000222214.9:c.*288G>T (GCDH) | ENSP00000222214.4:n.*288G>T | |
| ENST00000293695.7:c.612+175C>A (SYCE2) | ENSP00000293695.6:n.612+175C>A | |
| ENST00000588242.2:n.259G>T (GCDH) | ||
| ENST00000590530.5:c.*1045G>T (GCDH) | ENSP00000468452.1:n.*1045G>T | |
| ENST00000591050.1:c.210+1966G>T (GCDH) | ||
| ENST00000591470.5:c.*288G>T (GCDH) | ENSP00000466845.1:n.*288G>T | |
| ENST00000592819.1:c.185+129C>A (SYCE2) | ||
| NM_000159.3:c.*288G>T (GCDH) | NP_000150.1:n.*288G>T | |
| NM_001105578.1:c.612+175C>A (SYCE2) | NP_001099048.1:n.612+175C>A | |
| NM_013976.3:c.*86G>T (GCDH) | NP_039663.1:n.*86G>T | |
| NR_102316.1:n.1768G>T (GCDH) | ||
| NR_102317.1:n.1986G>T (GCDH) | ||
| XM_005259848.3:c.*22+129C>A (SYCE2) | XP_005259905.1:n.*22+129C>A | |
| XM_006722721.2:c.1244-405G>T (GCDH) | XP_006722784.1:n.1244-405G>T | |
| XM_011527882.1:c.609+175C>A (SYCE2) | XP_011526184.1:n.609+175C>A | |
| XM_011527883.1:c.*22+129C>A (SYCE2) | XP_011526185.1:n.*22+129C>A | |
| XM_011527899.1:c.1243+1966G>T (GCDH) | XP_011526201.1:n.1243+1966G>T | |
| XM_011527900.1:c.1244-405G>T (GCDH) | XP_011526202.1:n.1244-405G>T | |
| XM_005259848.4:c.*22+129C>A (SYCE2) | XP_005259905.1:n.*22+129C>A | |
| XM_011527882.2:c.609+175C>A (SYCE2) | XP_011526184.1:n.609+175C>A | |
| XM_011527883.2:c.*22+129C>A (SYCE2) | XP_011526185.1:n.*22+129C>A | |
| XM_011527899.2:c.1243+1966G>T (GCDH) | XP_011526201.1:n.1243+1966G>T | |
| XM_011527900.2:c.1244-405G>T (GCDH) | XP_011526202.1:n.1244-405G>T | |
| XM_017026580.1:c.1244-405G>T (GCDH) | XP_016882069.1:n.1244-405G>T | |
| NM_000159.4:c.*288G>T (GCDH) MANE Select | NP_000150.1:n.*288G>T | |
| NM_001105578.2:c.612+175C>A (SYCE2) MANE Select | NP_001099048.1:n.612+175C>A | |
| NM_013976.4:c.*86G>T (GCDH) | NP_039663.1:n.*86G>T | |
| NM_013976.5:c.*86G>T (GCDH) | NP_039663.1:n.*86G>T |