Canonical Allele Identifier: CA415184170

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648389C>T (hg19) ; chrX:g.154420050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420050C>T , CM000685.2:g.154420050C>T	GRCh38
NC_000023.10:g.153648389C>T , CM000685.1:g.153648389C>T	GRCh37
NC_000023.9:g.153301583C>T	NCBI36
NG_009634.1:g.13513C>T
NG_009634.2:g.13516C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1412C>T
ENST00000698317.1:n.2028C>T
ENST00000698318.1:n.1811C>T
ENST00000698319.1:n.1174C>T
ENST00000698320.1:n.1062C>T
ENST00000470127.2:n.1075C>T
ENST00000475699.6:c.566C>T	ENSP00000419854.3:p.Ala189Val
ENST00000483674.3:n.484C>T
ENST00000601016.6:c.602C>T MANE Select	ENSP00000469981.1:p.Ala201Val
ENST00000612012.5:c.560C>T	ENSP00000482070.2:p.Ala187Val
ENST00000612460.5:c.512C>T	ENSP00000481037.1:p.Ala171Val
ENST00000614595.2:n.1949C>T
ENST00000615658.5:n.1191C>T
ENST00000616020.5:c.614C>T	ENSP00000483636.2:p.Ala205Val
ENST00000617701.5:c.*615C>T	ENSP00000481645.1:n.*615C>T
ENST00000652354.1:c.284C>T	ENSP00000498734.1:p.Ala95Val
ENST00000652358.1:c.395C>T	ENSP00000498464.1:p.Ala132Val
ENST00000652390.1:c.521C>T	ENSP00000498858.1:p.Ala174Val
ENST00000652476.1:n.1268C>T
ENST00000652644.1:c.215C>T	ENSP00000498496.1:p.Ala72Val
ENST00000652682.1:c.659C>T	ENSP00000498288.1:p.Ala220Val
ENST00000652685.1:n.955C>T
ENST00000369776.8:c.395C>T	ENSP00000358791.4:p.Ala132Val
ENST00000426231.5:c.599C>T
ENST00000439735.2:c.509C>T	ENSP00000398193.1:p.Ala170Val
ENST00000470127.1:n.181C>T
ENST00000475699.5:c.560C>T	ENSP00000419854.2:p.Ala187Val
ENST00000494912.5:n.1291C>T
ENST00000498029.1:n.60C>T
ENST00000601016.5:c.602C>T	ENSP00000469981.1:p.Ala201Val
ENST00000612012.4:c.566C>T	ENSP00000482070.1:p.Ala189Val
ENST00000612460.4:c.512C>T	ENSP00000481037.1:p.Ala171Val
ENST00000613002.4:c.470C>T	ENSP00000478154.1:p.Ala157Val
ENST00000615658.4:n.1291C>T
ENST00000615986.4:c.*330C>T	ENSP00000480133.1:n.*330C>T
ENST00000620808.4:c.*188C>T	ENSP00000479311.1:n.*188C>T
NM_000116.4:c.602C>T	NP_000107.1:p.Ala201Val
NM_001303465.1:c.614C>T	NP_001290394.1:p.Ala205Val
NM_181311.3:c.512C>T	NP_851828.1:p.Ala171Val
NM_181312.3:c.560C>T	NP_851829.1:p.Ala187Val
NM_181313.3:c.470C>T	NP_851830.1:p.Ala157Val
NR_024048.2:n.944C>T
XM_006724836.1:c.656C>T	XP_006724899.1:p.Ala219Val
XM_006724837.1:c.524C>T	XP_006724900.1:p.Ala175Val
XM_006724839.1:c.524C>T	XP_006724902.1:p.Ala175Val
XM_006724841.2:c.395C>T	XP_006724904.1:p.Ala132Val
XM_006724842.2:c.305C>T	XP_006724905.1:p.Ala102Val
XM_011531189.1:c.443C>T	XP_011529491.1:p.Ala148Val
XM_011531190.1:c.395C>T	XP_011529492.1:p.Ala132Val
XM_011531191.1:c.326C>T	XP_011529493.1:p.Ala109Val
XM_011531192.1:c.323C>T	XP_011529494.1:p.Ala108Val
XR_938511.1:n.950C>T
XM_006724841.4:c.395C>T	XP_006724904.1:p.Ala132Val
XM_006724842.4:c.305C>T	XP_006724905.1:p.Ala102Val
XM_011531191.2:c.326C>T	XP_011529493.1:p.Ala109Val
XM_017029761.1:c.470C>T	XP_016885250.1:p.Ala157Val
XM_017029762.1:c.566C>T	XP_016885251.1:p.Ala189Val
XM_017029763.1:c.389C>T	XP_016885252.1:p.Ala130Val
XM_017029764.1:c.323C>T	XP_016885253.1:p.Ala108Val
XM_017029765.2:c.263C>T	XP_016885254.1:p.Ala88Val
XM_024452431.1:c.443C>T	XP_024308199.1:p.Ala148Val
NM_000116.5:c.602C>T MANE Select	NP_000107.1:p.Ala201Val
NM_001303465.2:c.614C>T	NP_001290394.1:p.Ala205Val
NM_181311.4:c.512C>T	NP_851828.1:p.Ala171Val
NM_181312.4:c.560C>T	NP_851829.1:p.Ala187Val
NM_181313.4:c.470C>T	NP_851830.1:p.Ala157Val
NR_024048.3:n.923C>T