Canonical Allele Identifier: CA415184421

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648428A>T (hg19) ; chrX:g.154420089A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420089A>T , CM000685.2:g.154420089A>T	GRCh38
NC_000023.10:g.153648428A>T , CM000685.1:g.153648428A>T	GRCh37
NC_000023.9:g.153301622A>T	NCBI36
NG_009634.1:g.13552A>T
NG_009634.2:g.13555A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1451A>T
ENST00000698317.1:n.2067A>T
ENST00000698318.1:n.1850A>T
ENST00000698319.1:n.1213A>T
ENST00000698320.1:n.1101A>T
ENST00000470127.2:n.1114A>T
ENST00000475699.6:c.605A>T	ENSP00000419854.3:p.His202Leu
ENST00000483674.3:n.523A>T
ENST00000601016.6:c.641A>T MANE Select	ENSP00000469981.1:p.His214Leu
ENST00000612012.5:c.599A>T	ENSP00000482070.2:p.His200Leu
ENST00000612460.5:c.551A>T	ENSP00000481037.1:p.His184Leu
ENST00000614595.2:n.1988A>T
ENST00000615658.5:n.1230A>T
ENST00000616020.5:c.653A>T	ENSP00000483636.2:p.His218Leu
ENST00000617701.5:c.*654A>T	ENSP00000481645.1:n.*654A>T
ENST00000652354.1:c.323A>T	ENSP00000498734.1:p.His108Leu
ENST00000652358.1:c.434A>T	ENSP00000498464.1:p.His145Leu
ENST00000652390.1:c.560A>T	ENSP00000498858.1:p.His187Leu
ENST00000652476.1:n.1307A>T
ENST00000652644.1:c.254A>T	ENSP00000498496.1:p.His85Leu
ENST00000652682.1:c.698A>T	ENSP00000498288.1:p.His233Leu
ENST00000652685.1:n.994A>T
ENST00000369776.8:c.434A>T	ENSP00000358791.4:p.His145Leu
ENST00000426231.5:c.638A>T
ENST00000439735.2:c.548A>T	ENSP00000398193.1:p.His183Leu
ENST00000470127.1:n.220A>T
ENST00000475699.5:c.599A>T	ENSP00000419854.2:p.His200Leu
ENST00000494912.5:n.1330A>T
ENST00000498029.1:n.99A>T
ENST00000601016.5:c.641A>T	ENSP00000469981.1:p.His214Leu
ENST00000612460.4:c.551A>T	ENSP00000481037.1:p.His184Leu
ENST00000613002.4:c.509A>T	ENSP00000478154.1:p.His170Leu
ENST00000615986.4:c.*369A>T	ENSP00000480133.1:n.*369A>T
NM_000116.4:c.641A>T	NP_000107.1:p.His214Leu
NM_001303465.1:c.653A>T	NP_001290394.1:p.His218Leu
NM_181311.3:c.551A>T	NP_851828.1:p.His184Leu
NM_181312.3:c.599A>T	NP_851829.1:p.His200Leu
NM_181313.3:c.509A>T	NP_851830.1:p.His170Leu
NR_024048.2:n.983A>T
XM_006724836.1:c.695A>T	XP_006724899.1:p.His232Leu
XM_006724837.1:c.563A>T	XP_006724900.1:p.His188Leu
XM_006724839.1:c.563A>T	XP_006724902.1:p.His188Leu
XM_006724841.2:c.434A>T	XP_006724904.1:p.His145Leu
XM_006724842.2:c.344A>T	XP_006724905.1:p.His115Leu
XM_011531189.1:c.482A>T	XP_011529491.1:p.His161Leu
XM_011531190.1:c.434A>T	XP_011529492.1:p.His145Leu
XM_011531191.1:c.365A>T	XP_011529493.1:p.His122Leu
XM_011531192.1:c.362A>T	XP_011529494.1:p.His121Leu
XR_938511.1:n.989A>T
XM_006724841.4:c.434A>T	XP_006724904.1:p.His145Leu
XM_006724842.4:c.344A>T	XP_006724905.1:p.His115Leu
XM_011531191.2:c.365A>T	XP_011529493.1:p.His122Leu
XM_017029761.1:c.509A>T	XP_016885250.1:p.His170Leu
XM_017029762.1:c.605A>T	XP_016885251.1:p.His202Leu
XM_017029763.1:c.428A>T	XP_016885252.1:p.His143Leu
XM_017029764.1:c.362A>T	XP_016885253.1:p.His121Leu
XM_017029765.2:c.302A>T	XP_016885254.1:p.His101Leu
XM_024452431.1:c.482A>T	XP_024308199.1:p.His161Leu
NM_000116.5:c.641A>T MANE Select	NP_000107.1:p.His214Leu
NM_001303465.2:c.653A>T	NP_001290394.1:p.His218Leu
NM_181311.4:c.551A>T	NP_851828.1:p.His184Leu
NM_181312.4:c.599A>T	NP_851829.1:p.His200Leu
NM_181313.4:c.509A>T	NP_851830.1:p.His170Leu
NR_024048.3:n.962A>T