Canonical Allele Identifier: CA2466674900
Gene: TAFAZZIN HGNC NCBI
DNASE1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154412110A= , CM000685.2:g.154412110A= GRCh38
NC_000023.10:g.153640447A= , CM000685.1:g.153640447A= GRCh37
NC_000023.9:g.153293641A= NCBI36
NG_009634.1:g.5571A=
NG_012884.2:g.4979T=
NG_009634.2:g.5576A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.562A= (TAFAZZIN)
ENST00000698235.1:n.121A= (TAFAZZIN)
ENST00000698317.1:n.96A= (TAFAZZIN)
ENST00000475699.6:c.188A= (TAFAZZIN) ENSP00000419854.3:p.His63=
ENST00000476800.2:n.99A= (TAFAZZIN)
ENST00000483674.3:n.25A= (TAFAZZIN)
ENST00000601016.6:c.134A= (TAFAZZIN) MANE Select ENSP00000469981.1:p.His45=
ENST00000612012.5:c.134A= (TAFAZZIN) ENSP00000482070.2:p.His45=
ENST00000612460.5:c.134A= (TAFAZZIN) ENSP00000481037.1:p.His45=
ENST00000614595.2:n.492A= (TAFAZZIN)
ENST00000615658.5:n.447A= (TAFAZZIN)
ENST00000616020.5:c.188A= (TAFAZZIN) ENSP00000483636.2:p.His63=
ENST00000617701.5:c.134A= (TAFAZZIN) ENSP00000481645.1:p.His45=
ENST00000621647.2:n.187A= (TAFAZZIN)
ENST00000652358.1:c.-57+158A= (TAFAZZIN) ENSP00000498464.1:n.-57+158A=
ENST00000652390.1:c.53A= (TAFAZZIN) ENSP00000498858.1:p.His18=
ENST00000652476.1:n.295A= (TAFAZZIN)
ENST00000652682.1:c.134A= (TAFAZZIN) ENSP00000498288.1:p.His45=
ENST00000652685.1:n.186A= (TAFAZZIN)
ENST00000309585.9:c.-392T= (DNASE1L1) ENSP00000309168.5:n.-392T=
ENST00000369776.8:c.163+104A= (TAFAZZIN) ENSP00000358791.4:n.163+104A=
ENST00000439735.2:c.134A= (TAFAZZIN) ENSP00000398193.1:p.His45=
ENST00000475699.5:c.134A= (TAFAZZIN) ENSP00000419854.2:p.His45=
ENST00000601016.5:c.134A= (TAFAZZIN) ENSP00000469981.1:p.His45=
ENST00000612012.4:c.188A= (TAFAZZIN) ENSP00000482070.1:p.His63=
ENST00000612460.4:c.134A= (TAFAZZIN) ENSP00000481037.1:p.His45=
ENST00000613002.4:c.134A= (TAFAZZIN) ENSP00000478154.1:p.His45=
ENST00000613634.4:n.454A= (TAFAZZIN)
ENST00000614595.1:n.353A= (TAFAZZIN)
ENST00000615658.4:n.460A= (TAFAZZIN)
ENST00000615986.4:c.134A= (TAFAZZIN) ENSP00000480133.1:p.His45=
ENST00000616020.4:c.188A= (TAFAZZIN) ENSP00000483636.1:p.His63=
ENST00000617701.4:c.134A= (TAFAZZIN) ENSP00000481645.1:p.His45=
ENST00000620808.4:c.134A= (TAFAZZIN) ENSP00000479311.1:p.His45=
ENST00000621647.1:n.419A= (TAFAZZIN)
NM_000116.4:c.134A= (TAFAZZIN) NP_000107.1:p.His45=
NM_001303465.1:c.188A= (TAFAZZIN) NP_001290394.1:p.His63=
NM_181311.3:c.134A= (TAFAZZIN) NP_851828.1:p.His45=
NM_181312.3:c.134A= (TAFAZZIN) NP_851829.1:p.His45=
NM_181313.3:c.134A= (TAFAZZIN) NP_851830.1:p.His45=
NR_024048.2:n.460A= (TAFAZZIN)
XM_006724836.1:c.188A= (TAFAZZIN) XP_006724899.1:p.His63=
XM_006724837.1:c.188A= (TAFAZZIN) XP_006724900.1:p.His63=
XM_006724839.1:c.188A= (TAFAZZIN) XP_006724902.1:p.His63=
XM_006724841.2:c.-161A= (TAFAZZIN) XP_006724904.1:n.-161A=
XM_006724842.2:c.-161A= (TAFAZZIN) XP_006724905.1:n.-161A=
XM_011531189.1:c.188A= (TAFAZZIN) XP_011529491.1:p.His63=
XR_938511.1:n.491A= (TAFAZZIN)
XM_006724841.4:c.-161A= (TAFAZZIN) XP_006724904.1:n.-161A=
XM_006724842.4:c.-161A= (TAFAZZIN) XP_006724905.1:n.-161A=
XM_017029761.1:c.134A= (TAFAZZIN) XP_016885250.1:p.His45=
XM_017029762.1:c.188A= (TAFAZZIN) XP_016885251.1:p.His63=
XM_017029763.1:c.134A= (TAFAZZIN) XP_016885252.1:p.His45=
XM_017029765.2:c.-161A= (TAFAZZIN) XP_016885254.1:n.-161A=
XM_024452431.1:c.188A= (TAFAZZIN) XP_024308199.1:p.His63=
NM_000116.5:c.134A= (TAFAZZIN) MANE Select NP_000107.1:p.His45=
NM_001303465.2:c.188A= (TAFAZZIN) NP_001290394.1:p.His63=
NM_181311.4:c.134A= (TAFAZZIN) NP_851828.1:p.His45=
NM_181312.4:c.134A= (TAFAZZIN) NP_851829.1:p.His45=
NM_181313.4:c.134A= (TAFAZZIN) NP_851830.1:p.His45=
NR_024048.3:n.439A= (TAFAZZIN)