Canonical Allele Identifier: CA415185408

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649028G>T (hg19) ; chrX:g.154420689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420689G>T , CM000685.2:g.154420689G>T	GRCh38
NC_000023.10:g.153649028G>T , CM000685.1:g.153649028G>T	GRCh37
NC_000023.9:g.153302222G>T	NCBI36
NG_009634.1:g.14152G>T
NG_009634.2:g.14155G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1541G>T
ENST00000698317.1:n.2157G>T
ENST00000698318.1:n.1940G>T
ENST00000698319.1:n.1303G>T
ENST00000698320.1:n.1191G>T
ENST00000470127.2:n.1204G>T
ENST00000475699.6:c.695G>T	ENSP00000419854.3:p.Ser232Ile
ENST00000483674.3:n.613G>T
ENST00000601016.6:c.731G>T MANE Select	ENSP00000469981.1:p.Ser244Ile
ENST00000612012.5:c.689G>T	ENSP00000482070.2:p.Ser230Ile
ENST00000612460.5:c.641G>T	ENSP00000481037.1:p.Ser214Ile
ENST00000614595.2:n.2078G>T
ENST00000615658.5:n.1320G>T
ENST00000616020.5:c.743G>T	ENSP00000483636.2:p.Ser248Ile
ENST00000617701.5:c.*744G>T	ENSP00000481645.1:n.*744G>T
ENST00000651139.1:c.-53G>T	ENSP00000498957.1:n.-53G>T
ENST00000652354.1:c.413G>T	ENSP00000498734.1:p.Ser138Ile
ENST00000652358.1:c.524G>T	ENSP00000498464.1:p.Ser175Ile
ENST00000652390.1:c.650G>T	ENSP00000498858.1:p.Ser217Ile
ENST00000652476.1:n.1397G>T
ENST00000652644.1:c.344G>T	ENSP00000498496.1:p.Ser115Ile
ENST00000652682.1:c.788G>T	ENSP00000498288.1:p.Ser263Ile
ENST00000652685.1:n.1084G>T
ENST00000369776.8:c.641G>T	ENSP00000358791.4:p.Ser214Ile
ENST00000426231.5:c.728G>T
ENST00000475699.5:c.689G>T	ENSP00000419854.2:p.Ser230Ile
ENST00000494912.5:n.1420G>T
ENST00000498029.1:n.189G>T
ENST00000601016.5:c.731G>T	ENSP00000469981.1:p.Ser244Ile
ENST00000612460.4:c.641G>T	ENSP00000481037.1:p.Ser214Ile
ENST00000613002.4:c.599G>T	ENSP00000478154.1:p.Ser200Ile
ENST00000615986.4:c.*459G>T	ENSP00000480133.1:n.*459G>T
NM_000116.4:c.731G>T	NP_000107.1:p.Ser244Ile
NM_001303465.1:c.743G>T	NP_001290394.1:p.Ser248Ile
NM_181311.3:c.641G>T	NP_851828.1:p.Ser214Ile
NM_181312.3:c.689G>T	NP_851829.1:p.Ser230Ile
NM_181313.3:c.599G>T	NP_851830.1:p.Ser200Ile
NR_024048.2:n.1073G>T
XM_006724836.1:c.785G>T	XP_006724899.1:p.Ser262Ile
XM_006724837.1:c.770G>T	XP_006724900.1:p.Ser257Ile
XM_006724839.1:c.653G>T	XP_006724902.1:p.Ser218Ile
XM_006724841.2:c.524G>T	XP_006724904.1:p.Ser175Ile
XM_006724842.2:c.434G>T	XP_006724905.1:p.Ser145Ile
XM_011531189.1:c.572G>T	XP_011529491.1:p.Ser191Ile
XM_011531190.1:c.524G>T	XP_011529492.1:p.Ser175Ile
XM_011531191.1:c.455G>T	XP_011529493.1:p.Ser152Ile
XM_011531192.1:c.452G>T	XP_011529494.1:p.Ser151Ile
XR_938511.1:n.1079G>T
XM_006724841.4:c.524G>T	XP_006724904.1:p.Ser175Ile
XM_006724842.4:c.434G>T	XP_006724905.1:p.Ser145Ile
XM_011531191.2:c.455G>T	XP_011529493.1:p.Ser152Ile
XM_017029761.1:c.716G>T	XP_016885250.1:p.Ser239Ile
XM_017029762.1:c.695G>T	XP_016885251.1:p.Ser232Ile
XM_017029763.1:c.518G>T	XP_016885252.1:p.Ser173Ile
XM_017029764.1:c.452G>T	XP_016885253.1:p.Ser151Ile
XM_017029765.2:c.392G>T	XP_016885254.1:p.Ser131Ile
XM_024452431.1:c.689G>T	XP_024308199.1:p.Ser230Ile
NM_000116.5:c.731G>T MANE Select	NP_000107.1:p.Ser244Ile
NM_001303465.2:c.743G>T	NP_001290394.1:p.Ser248Ile
NM_181311.4:c.641G>T	NP_851828.1:p.Ser214Ile
NM_181312.4:c.689G>T	NP_851829.1:p.Ser230Ile
NM_181313.4:c.599G>T	NP_851830.1:p.Ser200Ile
NR_024048.3:n.1052G>T