Canonical Allele Identifier: CA2466677497
Gene: TAFAZZIN HGNC NCBI

Linked Data

dbSNP Id: rs2068578382

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154419844G>A , CM000685.2:g.154419844G>A GRCh38
NC_000023.10:g.153648183G>A , CM000685.1:g.153648183G>A GRCh37
NC_000023.9:g.153301377G>A NCBI36
NG_009634.1:g.13307G>A
NG_009634.2:g.13310G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000698234.1:n.1206G>A
ENST00000698317.1:n.1822G>A
ENST00000698318.1:n.1605G>A
ENST00000698319.1:n.968G>A
ENST00000698320.1:n.856G>A
ENST00000470127.2:n.869G>A
ENST00000475699.6:c.547+98G>A ENSP00000419854.3:n.547+98G>A
ENST00000483674.3:n.465+98G>A
ENST00000601016.6:c.583+98G>A MANE Select ENSP00000469981.1:n.583+98G>A
ENST00000612012.5:c.542-188G>A ENSP00000482070.2:n.542-188G>A
ENST00000612460.5:c.493+98G>A ENSP00000481037.1:n.493+98G>A
ENST00000614595.2:n.1930+98G>A
ENST00000615658.5:n.985G>A
ENST00000616020.5:c.596-188G>A ENSP00000483636.2:n.596-188G>A
ENST00000617701.5:c.*409G>A ENSP00000481645.1:n.*409G>A
ENST00000652354.1:c.266-188G>A ENSP00000498734.1:n.266-188G>A
ENST00000652358.1:c.376+98G>A ENSP00000498464.1:n.376+98G>A
ENST00000652390.1:c.502+98G>A ENSP00000498858.1:n.502+98G>A
ENST00000652476.1:n.1062G>A
ENST00000652644.1:c.196+98G>A ENSP00000498496.1:n.196+98G>A
ENST00000652682.1:c.640+98G>A ENSP00000498288.1:n.640+98G>A
ENST00000652685.1:n.749G>A
ENST00000369776.8:c.377-188G>A ENSP00000358791.4:n.377-188G>A
ENST00000426231.5:c.580+98G>A
ENST00000439735.2:c.490+98G>A ENSP00000398193.1:n.490+98G>A
ENST00000470127.1:n.162+98G>A
ENST00000475699.5:c.542-188G>A ENSP00000419854.2:n.542-188G>A
ENST00000476679.5:n.675G>A
ENST00000494912.5:n.1272+98G>A
ENST00000601016.5:c.583+98G>A ENSP00000469981.1:n.583+98G>A
ENST00000612012.4:c.547+98G>A ENSP00000482070.1:n.547+98G>A
ENST00000612460.4:c.493+98G>A ENSP00000481037.1:n.493+98G>A
ENST00000613002.4:c.452-188G>A ENSP00000478154.1:n.452-188G>A
ENST00000613634.4:n.911G>A
ENST00000615658.4:n.1085G>A
ENST00000615986.4:c.*311+98G>A ENSP00000480133.1:n.*311+98G>A
ENST00000620808.4:c.*170-188G>A ENSP00000479311.1:n.*170-188G>A
NM_000116.4:c.583+98G>A NP_000107.1:n.583+98G>A
NM_001303465.1:c.596-188G>A NP_001290394.1:n.596-188G>A
NM_181311.3:c.493+98G>A NP_851828.1:n.493+98G>A
NM_181312.3:c.542-188G>A NP_851829.1:n.542-188G>A
NM_181313.3:c.452-188G>A NP_851830.1:n.452-188G>A
NR_024048.2:n.925+98G>A
XM_006724836.1:c.637+98G>A XP_006724899.1:n.637+98G>A
XM_006724837.1:c.506-188G>A XP_006724900.1:n.506-188G>A
XM_006724839.1:c.506-188G>A XP_006724902.1:n.506-188G>A
XM_006724841.2:c.376+98G>A XP_006724904.1:n.376+98G>A
XM_006724842.2:c.286+98G>A XP_006724905.1:n.286+98G>A
XM_011531189.1:c.425-188G>A XP_011529491.1:n.425-188G>A
XM_011531190.1:c.376+98G>A XP_011529492.1:n.376+98G>A
XM_011531191.1:c.307+98G>A XP_011529493.1:n.307+98G>A
XM_011531192.1:c.304+98G>A XP_011529494.1:n.304+98G>A
XR_938511.1:n.931+98G>A
XM_006724841.4:c.376+98G>A XP_006724904.1:n.376+98G>A
XM_006724842.4:c.286+98G>A XP_006724905.1:n.286+98G>A
XM_011531191.2:c.307+98G>A XP_011529493.1:n.307+98G>A
XM_017029761.1:c.452-188G>A XP_016885250.1:n.452-188G>A
XM_017029762.1:c.547+98G>A XP_016885251.1:n.547+98G>A
XM_017029763.1:c.371-188G>A XP_016885252.1:n.371-188G>A
XM_017029764.1:c.304+98G>A XP_016885253.1:n.304+98G>A
XM_017029765.2:c.245-188G>A XP_016885254.1:n.245-188G>A
XM_024452431.1:c.425-188G>A XP_024308199.1:n.425-188G>A
NM_000116.5:c.583+98G>A MANE Select NP_000107.1:n.583+98G>A
NM_001303465.2:c.596-188G>A NP_001290394.1:n.596-188G>A
NM_181311.4:c.493+98G>A NP_851828.1:n.493+98G>A
NM_181312.4:c.542-188G>A NP_851829.1:n.542-188G>A
NM_181313.4:c.452-188G>A NP_851830.1:n.452-188G>A
NR_024048.3:n.904+98G>A