UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
MyVariant Identifiers:
chrX:g.153640427C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154412090C>T , CM000685.2:g.154412090C>T | GRCh38 |
| NC_000023.10:g.153640427C>T , CM000685.1:g.153640427C>T | GRCh37 |
| NC_000023.9:g.153293621C>T | NCBI36 |
| NG_009634.1:g.5551C>T | |
| NG_012884.2:g.4999G>A | |
| NG_009634.2:g.5556C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698234.1:n.542C>T (TAFAZZIN) | ||
| ENST00000698235.1:n.101C>T (TAFAZZIN) | ||
| ENST00000698317.1:n.76C>T (TAFAZZIN) | ||
| ENST00000475699.6:c.168C>T (TAFAZZIN) | ENSP00000419854.3:p.Tyr56= | |
| ENST00000476800.2:n.79C>T (TAFAZZIN) | ||
| ENST00000483674.3:n.5C>T (TAFAZZIN) | ||
| ENST00000601016.6:c.114C>T (TAFAZZIN) MANE Select | ENSP00000469981.1:p.Tyr38= | |
| ENST00000612012.5:c.114C>T (TAFAZZIN) | ENSP00000482070.2:p.Tyr38= | |
| ENST00000612460.5:c.114C>T (TAFAZZIN) | ENSP00000481037.1:p.Tyr38= | |
| ENST00000614595.2:n.472C>T (TAFAZZIN) | ||
| ENST00000615658.5:n.427C>T (TAFAZZIN) | ||
| ENST00000616020.5:c.168C>T (TAFAZZIN) | ENSP00000483636.2:p.Tyr56= | |
| ENST00000617701.5:c.114C>T (TAFAZZIN) | ENSP00000481645.1:p.Tyr38= | |
| ENST00000621647.2:n.167C>T (TAFAZZIN) | ||
| ENST00000652358.1:c.-57+138C>T (TAFAZZIN) | ENSP00000498464.1:n.-57+138C>T | |
| ENST00000652390.1:c.33C>T (TAFAZZIN) | ENSP00000498858.1:p.Tyr11= | |
| ENST00000652476.1:n.275C>T (TAFAZZIN) | ||
| ENST00000652682.1:c.114C>T (TAFAZZIN) | ENSP00000498288.1:p.Tyr38= | |
| ENST00000652685.1:n.166C>T (TAFAZZIN) | ||
| ENST00000309585.9:c.-372G>A (DNASE1L1) | ENSP00000309168.5:n.-372G>A | |
| ENST00000369776.8:c.163+84C>T (TAFAZZIN) | ENSP00000358791.4:n.163+84C>T | |
| ENST00000369809.5:c.-630G>A (DNASE1L1) | ENSP00000358824.1:n.-630G>A | |
| ENST00000393638.5:c.-287G>A (DNASE1L1) | ENSP00000377255.1:n.-287G>A | |
| ENST00000424626.5:c.-630G>A (DNASE1L1) | ENSP00000393000.1:n.-630G>A | |
| ENST00000439735.2:c.114C>T (TAFAZZIN) | ENSP00000398193.1:p.Tyr38= | |
| ENST00000475699.5:c.114C>T (TAFAZZIN) | ENSP00000419854.2:p.Tyr38= | |
| ENST00000601016.5:c.114C>T (TAFAZZIN) | ENSP00000469981.1:p.Tyr38= | |
| ENST00000612012.4:c.168C>T (TAFAZZIN) | ENSP00000482070.1:p.Tyr56= | |
| ENST00000612460.4:c.114C>T (TAFAZZIN) | ENSP00000481037.1:p.Tyr38= | |
| ENST00000613002.4:c.114C>T (TAFAZZIN) | ENSP00000478154.1:p.Tyr38= | |
| ENST00000613634.4:n.434C>T (TAFAZZIN) | ||
| ENST00000614595.1:n.333C>T (TAFAZZIN) | ||
| ENST00000615658.4:n.440C>T (TAFAZZIN) | ||
| ENST00000615986.4:c.114C>T (TAFAZZIN) | ENSP00000480133.1:p.Tyr38= | |
| ENST00000616020.4:c.168C>T (TAFAZZIN) | ENSP00000483636.1:p.Tyr56= | |
| ENST00000617701.4:c.114C>T (TAFAZZIN) | ENSP00000481645.1:p.Tyr38= | |
| ENST00000620808.4:c.114C>T (TAFAZZIN) | ENSP00000479311.1:p.Tyr38= | |
| ENST00000621647.1:n.399C>T (TAFAZZIN) | ||
| NM_000116.4:c.114C>T (TAFAZZIN) | NP_000107.1:p.Tyr38= | |
| NM_001009932.2:c.-630G>A (DNASE1L1) | NP_001009932.1:n.-630G>A | |
| NM_001009933.2:c.-372G>A (DNASE1L1) | NP_001009933.1:n.-372G>A | |
| NM_001009934.2:c.-287G>A (DNASE1L1) | NP_001009934.1:n.-287G>A | |
| NM_001303465.1:c.168C>T (TAFAZZIN) | NP_001290394.1:p.Tyr56= | |
| NM_181311.3:c.114C>T (TAFAZZIN) | NP_851828.1:p.Tyr38= | |
| NM_181312.3:c.114C>T (TAFAZZIN) | NP_851829.1:p.Tyr38= | |
| NM_181313.3:c.114C>T (TAFAZZIN) | NP_851830.1:p.Tyr38= | |
| NR_024048.2:n.440C>T (TAFAZZIN) | ||
| XM_006724836.1:c.168C>T (TAFAZZIN) | XP_006724899.1:p.Tyr56= | |
| XM_006724837.1:c.168C>T (TAFAZZIN) | XP_006724900.1:p.Tyr56= | |
| XM_006724839.1:c.168C>T (TAFAZZIN) | XP_006724902.1:p.Tyr56= | |
| XM_006724841.2:c.-181C>T (TAFAZZIN) | XP_006724904.1:n.-181C>T | |
| XM_006724842.2:c.-181C>T (TAFAZZIN) | XP_006724905.1:n.-181C>T | |
| XM_011531189.1:c.168C>T (TAFAZZIN) | XP_011529491.1:p.Tyr56= | |
| XR_938511.1:n.471C>T (TAFAZZIN) | ||
| XM_006724841.4:c.-181C>T (TAFAZZIN) | XP_006724904.1:n.-181C>T | |
| XM_006724842.4:c.-181C>T (TAFAZZIN) | XP_006724905.1:n.-181C>T | |
| XM_017029332.1:c.-1826G>A (DNASE1L1) | XP_016884821.1:n.-1826G>A | |
| XM_017029761.1:c.114C>T (TAFAZZIN) | XP_016885250.1:p.Tyr38= | |
| XM_017029762.1:c.168C>T (TAFAZZIN) | XP_016885251.1:p.Tyr56= | |
| XM_017029763.1:c.114C>T (TAFAZZIN) | XP_016885252.1:p.Tyr38= | |
| XM_017029765.2:c.-181C>T (TAFAZZIN) | XP_016885254.1:n.-181C>T | |
| XM_024452431.1:c.168C>T (TAFAZZIN) | XP_024308199.1:p.Tyr56= | |
| NM_000116.5:c.114C>T (TAFAZZIN) MANE Select | NP_000107.1:p.Tyr38= | |
| NM_001009933.3:c.-372G>A (DNASE1L1) | NP_001009933.1:n.-372G>A | |
| NM_001303465.2:c.168C>T (TAFAZZIN) | NP_001290394.1:p.Tyr56= | |
| NM_181311.4:c.114C>T (TAFAZZIN) | NP_851828.1:p.Tyr38= | |
| NM_181312.4:c.114C>T (TAFAZZIN) | NP_851829.1:p.Tyr38= | |
| NM_181313.4:c.114C>T (TAFAZZIN) | NP_851830.1:p.Tyr38= | |
| NR_024048.3:n.419C>T (TAFAZZIN) | ||
| NM_001009932.3:c.-630G>A (DNASE1L1) | NP_001009932.1:n.-630G>A | |
| NM_001009934.3:c.-287G>A (DNASE1L1) | NP_001009934.1:n.-287G>A |