Canonical Allele Identifier: CA415184284

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648406C>T (hg19) ; chrX:g.154420067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420067C>T , CM000685.2:g.154420067C>T	GRCh38
NC_000023.10:g.153648406C>T , CM000685.1:g.153648406C>T	GRCh37
NC_000023.9:g.153301600C>T	NCBI36
NG_009634.1:g.13530C>T
NG_009634.2:g.13533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1429C>T
ENST00000698317.1:n.2045C>T
ENST00000698318.1:n.1828C>T
ENST00000698319.1:n.1191C>T
ENST00000698320.1:n.1079C>T
ENST00000470127.2:n.1092C>T
ENST00000475699.6:c.583C>T	ENSP00000419854.3:p.Pro195Ser
ENST00000483674.3:n.501C>T
ENST00000601016.6:c.619C>T MANE Select	ENSP00000469981.1:p.Pro207Ser
ENST00000612012.5:c.577C>T	ENSP00000482070.2:p.Pro193Ser
ENST00000612460.5:c.529C>T	ENSP00000481037.1:p.Pro177Ser
ENST00000614595.2:n.1966C>T
ENST00000615658.5:n.1208C>T
ENST00000616020.5:c.631C>T	ENSP00000483636.2:p.Pro211Ser
ENST00000617701.5:c.*632C>T	ENSP00000481645.1:n.*632C>T
ENST00000652354.1:c.301C>T	ENSP00000498734.1:p.Pro101Ser
ENST00000652358.1:c.412C>T	ENSP00000498464.1:p.Pro138Ser
ENST00000652390.1:c.538C>T	ENSP00000498858.1:p.Pro180Ser
ENST00000652476.1:n.1285C>T
ENST00000652644.1:c.232C>T	ENSP00000498496.1:p.Pro78Ser
ENST00000652682.1:c.676C>T	ENSP00000498288.1:p.Pro226Ser
ENST00000652685.1:n.972C>T
ENST00000369776.8:c.412C>T	ENSP00000358791.4:p.Pro138Ser
ENST00000426231.5:c.616C>T
ENST00000439735.2:c.526C>T	ENSP00000398193.1:p.Pro176Ser
ENST00000470127.1:n.198C>T
ENST00000475699.5:c.577C>T	ENSP00000419854.2:p.Pro193Ser
ENST00000494912.5:n.1308C>T
ENST00000498029.1:n.77C>T
ENST00000601016.5:c.619C>T	ENSP00000469981.1:p.Pro207Ser
ENST00000612012.4:c.583C>T	ENSP00000482070.1:p.Pro195Ser
ENST00000612460.4:c.529C>T	ENSP00000481037.1:p.Pro177Ser
ENST00000613002.4:c.487C>T	ENSP00000478154.1:p.Pro163Ser
ENST00000615658.4:n.1308C>T
ENST00000615986.4:c.*347C>T	ENSP00000480133.1:n.*347C>T
ENST00000620808.4:c.*205C>T	ENSP00000479311.1:n.*205C>T
NM_000116.4:c.619C>T	NP_000107.1:p.Pro207Ser
NM_001303465.1:c.631C>T	NP_001290394.1:p.Pro211Ser
NM_181311.3:c.529C>T	NP_851828.1:p.Pro177Ser
NM_181312.3:c.577C>T	NP_851829.1:p.Pro193Ser
NM_181313.3:c.487C>T	NP_851830.1:p.Pro163Ser
NR_024048.2:n.961C>T
XM_006724836.1:c.673C>T	XP_006724899.1:p.Pro225Ser
XM_006724837.1:c.541C>T	XP_006724900.1:p.Pro181Ser
XM_006724839.1:c.541C>T	XP_006724902.1:p.Pro181Ser
XM_006724841.2:c.412C>T	XP_006724904.1:p.Pro138Ser
XM_006724842.2:c.322C>T	XP_006724905.1:p.Pro108Ser
XM_011531189.1:c.460C>T	XP_011529491.1:p.Pro154Ser
XM_011531190.1:c.412C>T	XP_011529492.1:p.Pro138Ser
XM_011531191.1:c.343C>T	XP_011529493.1:p.Pro115Ser
XM_011531192.1:c.340C>T	XP_011529494.1:p.Pro114Ser
XR_938511.1:n.967C>T
XM_006724841.4:c.412C>T	XP_006724904.1:p.Pro138Ser
XM_006724842.4:c.322C>T	XP_006724905.1:p.Pro108Ser
XM_011531191.2:c.343C>T	XP_011529493.1:p.Pro115Ser
XM_017029761.1:c.487C>T	XP_016885250.1:p.Pro163Ser
XM_017029762.1:c.583C>T	XP_016885251.1:p.Pro195Ser
XM_017029763.1:c.406C>T	XP_016885252.1:p.Pro136Ser
XM_017029764.1:c.340C>T	XP_016885253.1:p.Pro114Ser
XM_017029765.2:c.280C>T	XP_016885254.1:p.Pro94Ser
XM_024452431.1:c.460C>T	XP_024308199.1:p.Pro154Ser
NM_000116.5:c.619C>T MANE Select	NP_000107.1:p.Pro207Ser
NM_001303465.2:c.631C>T	NP_001290394.1:p.Pro211Ser
NM_181311.4:c.529C>T	NP_851828.1:p.Pro177Ser
NM_181312.4:c.577C>T	NP_851829.1:p.Pro193Ser
NM_181313.4:c.487C>T	NP_851830.1:p.Pro163Ser
NR_024048.3:n.940C>T