Linked Data
ClinVar Variation Id:
381564
dbSNP Id:
rs782099193
ExAC:
X:153640417 C / T
gnomAD v2:
X-153640417-C-T
gnomAD v4:
X-154412080-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154412080C>T , CM000685.2:g.154412080C>T | GRCh38 |
| NC_000023.10:g.153640417C>T , CM000685.1:g.153640417C>T | GRCh37 |
| NC_000023.9:g.153293611C>T | NCBI36 |
| NG_009634.1:g.5541C>T | |
| NG_012884.2:g.5009G>A | |
| NG_009634.2:g.5546C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.532C>T (TAFAZZIN) | ||
| ENST00000698235.1:n.97-6C>T (TAFAZZIN) | ||
| ENST00000698317.1:n.66C>T (TAFAZZIN) | ||
| ENST00000475699.6:c.164-6C>T (TAFAZZIN) | ENSP00000419854.3:n.164-6C>T | |
| ENST00000476800.2:n.75-6C>T (TAFAZZIN) | ||
| ENST00000601016.6:c.110-6C>T (TAFAZZIN) MANE Select | ENSP00000469981.1:n.110-6C>T | |
| ENST00000612012.5:c.110-6C>T (TAFAZZIN) | ENSP00000482070.2:n.110-6C>T | |
| ENST00000612460.5:c.110-6C>T (TAFAZZIN) | ENSP00000481037.1:n.110-6C>T | |
| ENST00000614595.2:n.462C>T (TAFAZZIN) | ||
| ENST00000615658.5:n.423-6C>T (TAFAZZIN) | ||
| ENST00000616020.5:c.164-6C>T (TAFAZZIN) | ENSP00000483636.2:n.164-6C>T | |
| ENST00000617701.5:c.110-6C>T (TAFAZZIN) | ENSP00000481645.1:n.110-6C>T | |
| ENST00000621647.2:n.163-6C>T (TAFAZZIN) | ||
| ENST00000652358.1:c.-57+128C>T (TAFAZZIN) | ENSP00000498464.1:n.-57+128C>T | |
| ENST00000652390.1:c.29-6C>T (TAFAZZIN) | ENSP00000498858.1:n.29-6C>T | |
| ENST00000652476.1:n.271-6C>T (TAFAZZIN) | ||
| ENST00000652682.1:c.110-6C>T (TAFAZZIN) | ENSP00000498288.1:n.110-6C>T | |
| ENST00000652685.1:n.162-6C>T (TAFAZZIN) | ||
| ENST00000309585.9:c.-362G>A (DNASE1L1) | ENSP00000309168.5:n.-362G>A | |
| ENST00000369776.8:c.163+74C>T (TAFAZZIN) | ENSP00000358791.4:n.163+74C>T | |
| ENST00000369809.5:c.-620G>A (DNASE1L1) | ENSP00000358824.1:n.-620G>A | |
| ENST00000393638.5:c.-277G>A (DNASE1L1) | ENSP00000377255.1:n.-277G>A | |
| ENST00000424626.5:c.-620G>A (DNASE1L1) | ENSP00000393000.1:n.-620G>A | |
| ENST00000432135.1:c.-758G>A (DNASE1L1) | ENSP00000410281.1:n.-758G>A | |
| ENST00000439735.2:c.110-6C>T (TAFAZZIN) | ENSP00000398193.1:n.110-6C>T | |
| ENST00000451865.5:c.-277G>A (DNASE1L1) | ENSP00000393346.1:n.-277G>A | |
| ENST00000475699.5:c.110-6C>T (TAFAZZIN) | ENSP00000419854.2:n.110-6C>T | |
| ENST00000601016.5:c.110-6C>T (TAFAZZIN) | ENSP00000469981.1:n.110-6C>T | |
| ENST00000612012.4:c.164-6C>T (TAFAZZIN) | ENSP00000482070.1:n.164-6C>T | |
| ENST00000612460.4:c.110-6C>T (TAFAZZIN) | ENSP00000481037.1:n.110-6C>T | |
| ENST00000613002.4:c.110-6C>T (TAFAZZIN) | ENSP00000478154.1:n.110-6C>T | |
| ENST00000613634.4:n.430-6C>T (TAFAZZIN) | ||
| ENST00000614595.1:n.329-6C>T (TAFAZZIN) | ||
| ENST00000615658.4:n.436-6C>T (TAFAZZIN) | ||
| ENST00000615986.4:c.110-6C>T (TAFAZZIN) | ENSP00000480133.1:n.110-6C>T | |
| ENST00000616020.4:c.164-6C>T (TAFAZZIN) | ENSP00000483636.1:n.164-6C>T | |
| ENST00000617701.4:c.110-6C>T (TAFAZZIN) | ENSP00000481645.1:n.110-6C>T | |
| ENST00000620808.4:c.110-6C>T (TAFAZZIN) | ENSP00000479311.1:n.110-6C>T | |
| ENST00000621647.1:n.395-6C>T (TAFAZZIN) | ||
| NM_000116.4:c.110-6C>T (TAFAZZIN) | NP_000107.1:n.110-6C>T | |
| NM_001009932.2:c.-620G>A (DNASE1L1) | NP_001009932.1:n.-620G>A | |
| NM_001009933.2:c.-362G>A (DNASE1L1) | NP_001009933.1:n.-362G>A | |
| NM_001009934.2:c.-277G>A (DNASE1L1) | NP_001009934.1:n.-277G>A | |
| NM_001303465.1:c.164-6C>T (TAFAZZIN) | NP_001290394.1:n.164-6C>T | |
| NM_181311.3:c.110-6C>T (TAFAZZIN) | NP_851828.1:n.110-6C>T | |
| NM_181312.3:c.110-6C>T (TAFAZZIN) | NP_851829.1:n.110-6C>T | |
| NM_181313.3:c.110-6C>T (TAFAZZIN) | NP_851830.1:n.110-6C>T | |
| NR_024048.2:n.436-6C>T (TAFAZZIN) | ||
| XM_006724836.1:c.164-6C>T (TAFAZZIN) | XP_006724899.1:n.164-6C>T | |
| XM_006724837.1:c.164-6C>T (TAFAZZIN) | XP_006724900.1:n.164-6C>T | |
| XM_006724839.1:c.164-6C>T (TAFAZZIN) | XP_006724902.1:n.164-6C>T | |
| XM_006724841.2:c.-185-6C>T (TAFAZZIN) | XP_006724904.1:n.-185-6C>T | |
| XM_006724842.2:c.-185-6C>T (TAFAZZIN) | XP_006724905.1:n.-185-6C>T | |
| XM_011531189.1:c.164-6C>T (TAFAZZIN) | XP_011529491.1:n.164-6C>T | |
| XR_938511.1:n.467-6C>T (TAFAZZIN) | ||
| XM_005277829.4:c.-758G>A (DNASE1L1) | XP_005277886.1:n.-758G>A | |
| XM_006724841.4:c.-185-6C>T (TAFAZZIN) | XP_006724904.1:n.-185-6C>T | |
| XM_006724842.4:c.-185-6C>T (TAFAZZIN) | XP_006724905.1:n.-185-6C>T | |
| XM_017029332.1:c.-1816G>A (DNASE1L1) | XP_016884821.1:n.-1816G>A | |
| XM_017029761.1:c.110-6C>T (TAFAZZIN) | XP_016885250.1:n.110-6C>T | |
| XM_017029762.1:c.164-6C>T (TAFAZZIN) | XP_016885251.1:n.164-6C>T | |
| XM_017029763.1:c.110-6C>T (TAFAZZIN) | XP_016885252.1:n.110-6C>T | |
| XM_017029765.2:c.-185-6C>T (TAFAZZIN) | XP_016885254.1:n.-185-6C>T | |
| XM_024452431.1:c.164-6C>T (TAFAZZIN) | XP_024308199.1:n.164-6C>T | |
| NM_000116.5:c.110-6C>T (TAFAZZIN) MANE Select | NP_000107.1:n.110-6C>T | |
| NM_001009933.3:c.-362G>A (DNASE1L1) | NP_001009933.1:n.-362G>A | |
| NM_001303465.2:c.164-6C>T (TAFAZZIN) | NP_001290394.1:n.164-6C>T | |
| NM_181311.4:c.110-6C>T (TAFAZZIN) | NP_851828.1:n.110-6C>T | |
| NM_181312.4:c.110-6C>T (TAFAZZIN) | NP_851829.1:n.110-6C>T | |
| NM_181313.4:c.110-6C>T (TAFAZZIN) | NP_851830.1:n.110-6C>T | |
| NR_024048.3:n.415-6C>T (TAFAZZIN) | ||
| NM_001009932.3:c.-620G>A (DNASE1L1) | NP_001009932.1:n.-620G>A | |
| NM_001009934.3:c.-277G>A (DNASE1L1) | NP_001009934.1:n.-277G>A |