Canonical Allele Identifier: CA2466677579
Gene: TAFAZZIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420076C= , CM000685.2:g.154420076C= GRCh38
NC_000023.10:g.153648415C= , CM000685.1:g.153648415C= GRCh37
NC_000023.9:g.153301609C= NCBI36
NG_009634.1:g.13539C=
NG_009634.2:g.13542C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1438C=
ENST00000698317.1:n.2054C=
ENST00000698318.1:n.1837C=
ENST00000698319.1:n.1200C=
ENST00000698320.1:n.1088C=
ENST00000470127.2:n.1101C=
ENST00000475699.6:c.592C= ENSP00000419854.3:p.Leu198=
ENST00000483674.3:n.510C=
ENST00000601016.6:c.628C= MANE Select ENSP00000469981.1:p.Leu210=
ENST00000612012.5:c.586C= ENSP00000482070.2:p.Leu196=
ENST00000612460.5:c.538C= ENSP00000481037.1:p.Leu180=
ENST00000614595.2:n.1975C=
ENST00000615658.5:n.1217C=
ENST00000616020.5:c.640C= ENSP00000483636.2:p.Leu214=
ENST00000617701.5:c.*641C= ENSP00000481645.1:n.*641C=
ENST00000652354.1:c.310C= ENSP00000498734.1:p.Leu104=
ENST00000652358.1:c.421C= ENSP00000498464.1:p.Leu141=
ENST00000652390.1:c.547C= ENSP00000498858.1:p.Leu183=
ENST00000652476.1:n.1294C=
ENST00000652644.1:c.241C= ENSP00000498496.1:p.Leu81=
ENST00000652682.1:c.685C= ENSP00000498288.1:p.Leu229=
ENST00000652685.1:n.981C=
ENST00000369776.8:c.421C= ENSP00000358791.4:p.Leu141=
ENST00000426231.5:c.625C=
ENST00000439735.2:c.535C= ENSP00000398193.1:p.Leu179=
ENST00000470127.1:n.207C=
ENST00000475699.5:c.586C= ENSP00000419854.2:p.Leu196=
ENST00000494912.5:n.1317C=
ENST00000498029.1:n.86C=
ENST00000601016.5:c.628C= ENSP00000469981.1:p.Leu210=
ENST00000612460.4:c.538C= ENSP00000481037.1:p.Leu180=
ENST00000613002.4:c.496C= ENSP00000478154.1:p.Leu166=
ENST00000615658.4:n.1317C=
ENST00000615986.4:c.*356C= ENSP00000480133.1:n.*356C=
ENST00000620808.4:c.*214C= ENSP00000479311.1:n.*214C=
NM_000116.4:c.628C= NP_000107.1:p.Leu210=
NM_001303465.1:c.640C= NP_001290394.1:p.Leu214=
NM_181311.3:c.538C= NP_851828.1:p.Leu180=
NM_181312.3:c.586C= NP_851829.1:p.Leu196=
NM_181313.3:c.496C= NP_851830.1:p.Leu166=
NR_024048.2:n.970C=
XM_006724836.1:c.682C= XP_006724899.1:p.Leu228=
XM_006724837.1:c.550C= XP_006724900.1:p.Leu184=
XM_006724839.1:c.550C= XP_006724902.1:p.Leu184=
XM_006724841.2:c.421C= XP_006724904.1:p.Leu141=
XM_006724842.2:c.331C= XP_006724905.1:p.Leu111=
XM_011531189.1:c.469C= XP_011529491.1:p.Leu157=
XM_011531190.1:c.421C= XP_011529492.1:p.Leu141=
XM_011531191.1:c.352C= XP_011529493.1:p.Leu118=
XM_011531192.1:c.349C= XP_011529494.1:p.Leu117=
XR_938511.1:n.976C=
XM_006724841.4:c.421C= XP_006724904.1:p.Leu141=
XM_006724842.4:c.331C= XP_006724905.1:p.Leu111=
XM_011531191.2:c.352C= XP_011529493.1:p.Leu118=
XM_017029761.1:c.496C= XP_016885250.1:p.Leu166=
XM_017029762.1:c.592C= XP_016885251.1:p.Leu198=
XM_017029763.1:c.415C= XP_016885252.1:p.Leu139=
XM_017029764.1:c.349C= XP_016885253.1:p.Leu117=
XM_017029765.2:c.289C= XP_016885254.1:p.Leu97=
XM_024452431.1:c.469C= XP_024308199.1:p.Leu157=
NM_000116.5:c.628C= MANE Select NP_000107.1:p.Leu210=
NM_001303465.2:c.640C= NP_001290394.1:p.Leu214=
NM_181311.4:c.538C= NP_851828.1:p.Leu180=
NM_181312.4:c.586C= NP_851829.1:p.Leu196=
NM_181313.4:c.496C= NP_851830.1:p.Leu166=
NR_024048.3:n.949C=