Canonical Allele Identifier: CA415183581
Community Standard Title: NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
Gene: TAFAZZIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154419579T>A , CM000685.2:g.154419579T>A GRCh38
NC_000023.10:g.153647918T>A , CM000685.1:g.153647918T>A GRCh37
NC_000023.9:g.153301112T>A NCBI36
NG_009634.1:g.13042T>A
NG_009634.2:g.13045T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000116.5:c.497T>A MANE Select NP_000107.1:p.Leu166Ter
ENST00000601016.6:c.497T>A MANE Select ENSP00000469981.1:p.Leu166Ter
NM_000116.4:c.497T>A NP_000107.1:p.Leu166Ter
NM_001303465.1:c.551T>A NP_001290394.1:p.Leu184Ter
NM_001303465.2:c.551T>A NP_001290394.1:p.Leu184Ter
NM_181311.3:c.407T>A NP_851828.1:p.Leu136Ter
NM_181311.4:c.407T>A NP_851828.1:p.Leu136Ter
NM_181312.3:c.497T>A NP_851829.1:p.Leu166Ter
NM_181312.4:c.497T>A NP_851829.1:p.Leu166Ter
NM_181313.3:c.407T>A NP_851830.1:p.Leu136Ter
NM_181313.4:c.407T>A NP_851830.1:p.Leu136Ter
NR_024048.2:n.839T>A
NR_024048.3:n.818T>A
ENST00000369776.8:c.332T>A ENSP00000358791.4:p.Leu111Ter
ENST00000426231.5:c.413T>A
ENST00000439735.2:c.404T>A ENSP00000398193.1:p.Leu135Ter
ENST00000470127.1:n.76T>A
ENST00000470127.2:n.685T>A
ENST00000475699.5:c.497T>A ENSP00000419854.2:p.Leu166Ter
ENST00000475699.6:c.461T>A ENSP00000419854.3:p.Leu154Ter
ENST00000476679.5:n.410T>A
ENST00000483674.2:n.116T>A
ENST00000483674.3:n.298T>A
ENST00000483780.5:n.181T>A
ENST00000494912.5:n.1105T>A
ENST00000601016.5:c.497T>A ENSP00000469981.1:p.Leu166Ter
ENST00000612012.4:c.461T>A ENSP00000482070.1:p.Leu154Ter
ENST00000612012.5:c.497T>A ENSP00000482070.2:p.Leu166Ter
ENST00000612460.4:c.407T>A ENSP00000481037.1:p.Leu136Ter
ENST00000612460.5:c.407T>A ENSP00000481037.1:p.Leu136Ter
ENST00000613002.4:c.407T>A ENSP00000478154.1:p.Leu136Ter
ENST00000613634.4:n.727T>A
ENST00000614595.2:n.1844T>A
ENST00000615658.4:n.820T>A
ENST00000615658.5:n.720T>A
ENST00000615986.4:c.*225T>A ENSP00000480133.1:n.*225T>A
ENST00000616020.5:c.551T>A ENSP00000483636.2:p.Leu184Ter
ENST00000617701.5:c.*225T>A ENSP00000481645.1:n.*225T>A
ENST00000620808.4:c.*170-453T>A ENSP00000479311.1:n.*170-453T>A
ENST00000652354.1:c.221T>A ENSP00000498734.1:p.Leu74Ter
ENST00000652358.1:c.290T>A ENSP00000498464.1:p.Leu97Ter
ENST00000652390.1:c.416T>A ENSP00000498858.1:p.Leu139Ter
ENST00000652476.1:n.797T>A
ENST00000652644.1:c.110T>A ENSP00000498496.1:p.Leu37Ter
ENST00000652682.1:c.554T>A ENSP00000498288.1:p.Leu185Ter
ENST00000652685.1:n.565T>A
ENST00000698234.1:n.941T>A
ENST00000698317.1:n.1557T>A
ENST00000698318.1:n.1340T>A
ENST00000698319.1:n.703T>A
ENST00000698320.1:n.591T>A
XM_006724836.1:c.551T>A XP_006724899.1:p.Leu184Ter
XM_006724837.1:c.461T>A XP_006724900.1:p.Leu154Ter
XM_006724839.1:c.461T>A XP_006724902.1:p.Leu154Ter
XM_006724841.2:c.290T>A XP_006724904.1:p.Leu97Ter
XM_006724841.4:c.290T>A XP_006724904.1:p.Leu97Ter
XM_006724842.2:c.200T>A XP_006724905.1:p.Leu67Ter
XM_006724842.4:c.200T>A XP_006724905.1:p.Leu67Ter
XM_011531189.1:c.425-453T>A XP_011529491.1:n.425-453T>A
XM_011531190.1:c.290T>A XP_011529492.1:p.Leu97Ter
XM_011531191.1:c.221T>A XP_011529493.1:p.Leu74Ter
XM_011531191.2:c.221T>A XP_011529493.1:p.Leu74Ter
XM_011531192.1:c.218T>A XP_011529494.1:p.Leu73Ter
XM_017029761.1:c.407T>A XP_016885250.1:p.Leu136Ter
XM_017029762.1:c.461T>A XP_016885251.1:p.Leu154Ter
XM_017029763.1:c.371-453T>A XP_016885252.1:n.371-453T>A
XM_017029764.1:c.218T>A XP_016885253.1:p.Leu73Ter
XM_017029765.2:c.200T>A XP_016885254.1:p.Leu67Ter
XM_024452431.1:c.425-453T>A XP_024308199.1:n.425-453T>A
XR_938511.1:n.764T>A