Canonical Allele Identifier: CA2695123520
Gene: TAFAZZIN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154419755T>A , CM000685.2:g.154419755T>A GRCh38
NC_000023.10:g.153648094T>A , CM000685.1:g.153648094T>A GRCh37
NC_000023.9:g.153301288T>A NCBI36
NG_009634.1:g.13218T>A
NG_009634.2:g.13221T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1117T>A
ENST00000698317.1:n.1733T>A
ENST00000698318.1:n.1516T>A
ENST00000698319.1:n.879T>A
ENST00000698320.1:n.767T>A
ENST00000470127.2:n.780T>A
ENST00000475699.6:c.547+9T>A ENSP00000419854.3:n.547+9T>A
ENST00000483674.3:n.465+9T>A
ENST00000601016.6:c.583+9T>A MANE Select ENSP00000469981.1:n.583+9T>A
ENST00000612012.5:c.541+132T>A ENSP00000482070.2:n.541+132T>A
ENST00000612460.5:c.493+9T>A ENSP00000481037.1:n.493+9T>A
ENST00000614595.2:n.1930+9T>A
ENST00000615658.5:n.896T>A
ENST00000616020.5:c.595+132T>A ENSP00000483636.2:n.595+132T>A
ENST00000617701.5:c.*320T>A ENSP00000481645.1:n.*320T>A
ENST00000652354.1:c.265+132T>A ENSP00000498734.1:n.265+132T>A
ENST00000652358.1:c.376+9T>A ENSP00000498464.1:n.376+9T>A
ENST00000652390.1:c.502+9T>A ENSP00000498858.1:n.502+9T>A
ENST00000652476.1:n.973T>A
ENST00000652644.1:c.196+9T>A ENSP00000498496.1:n.196+9T>A
ENST00000652682.1:c.640+9T>A ENSP00000498288.1:n.640+9T>A
ENST00000652685.1:n.660T>A
ENST00000369776.8:c.376+132T>A ENSP00000358791.4:n.376+132T>A
ENST00000426231.5:c.580+9T>A
ENST00000439735.2:c.490+9T>A ENSP00000398193.1:n.490+9T>A
ENST00000470127.1:n.162+9T>A
ENST00000475699.5:c.541+132T>A ENSP00000419854.2:n.541+132T>A
ENST00000476679.5:n.586T>A
ENST00000483780.5:n.357T>A
ENST00000494912.5:n.1272+9T>A
ENST00000601016.5:c.583+9T>A ENSP00000469981.1:n.583+9T>A
ENST00000612012.4:c.547+9T>A ENSP00000482070.1:n.547+9T>A
ENST00000612460.4:c.493+9T>A ENSP00000481037.1:n.493+9T>A
ENST00000613002.4:c.451+132T>A ENSP00000478154.1:n.451+132T>A
ENST00000613634.4:n.822T>A
ENST00000615658.4:n.996T>A
ENST00000615986.4:c.*311+9T>A ENSP00000480133.1:n.*311+9T>A
ENST00000620808.4:c.*170-277T>A ENSP00000479311.1:n.*170-277T>A
NM_000116.4:c.583+9T>A NP_000107.1:n.583+9T>A
NM_001303465.1:c.595+132T>A NP_001290394.1:n.595+132T>A
NM_181311.3:c.493+9T>A NP_851828.1:n.493+9T>A
NM_181312.3:c.541+132T>A NP_851829.1:n.541+132T>A
NM_181313.3:c.451+132T>A NP_851830.1:n.451+132T>A
NR_024048.2:n.925+9T>A
XM_006724836.1:c.637+9T>A XP_006724899.1:n.637+9T>A
XM_006724837.1:c.505+132T>A XP_006724900.1:n.505+132T>A
XM_006724839.1:c.505+132T>A XP_006724902.1:n.505+132T>A
XM_006724841.2:c.376+9T>A XP_006724904.1:n.376+9T>A
XM_006724842.2:c.286+9T>A XP_006724905.1:n.286+9T>A
XM_011531189.1:c.425-277T>A XP_011529491.1:n.425-277T>A
XM_011531190.1:c.376+9T>A XP_011529492.1:n.376+9T>A
XM_011531191.1:c.307+9T>A XP_011529493.1:n.307+9T>A
XM_011531192.1:c.304+9T>A XP_011529494.1:n.304+9T>A
XR_938511.1:n.931+9T>A
XM_006724841.4:c.376+9T>A XP_006724904.1:n.376+9T>A
XM_006724842.4:c.286+9T>A XP_006724905.1:n.286+9T>A
XM_011531191.2:c.307+9T>A XP_011529493.1:n.307+9T>A
XM_017029761.1:c.451+132T>A XP_016885250.1:n.451+132T>A
XM_017029762.1:c.547+9T>A XP_016885251.1:n.547+9T>A
XM_017029763.1:c.371-277T>A XP_016885252.1:n.371-277T>A
XM_017029764.1:c.304+9T>A XP_016885253.1:n.304+9T>A
XM_017029765.2:c.244+132T>A XP_016885254.1:n.244+132T>A
XM_024452431.1:c.425-277T>A XP_024308199.1:n.425-277T>A
NM_000116.5:c.583+9T>A MANE Select NP_000107.1:n.583+9T>A
NM_001303465.2:c.595+132T>A NP_001290394.1:n.595+132T>A
NM_181311.4:c.493+9T>A NP_851828.1:n.493+9T>A
NM_181312.4:c.541+132T>A NP_851829.1:n.541+132T>A
NM_181313.4:c.451+132T>A NP_851830.1:n.451+132T>A
NR_024048.3:n.904+9T>A