Canonical Allele Identifier: CA519278039

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648423G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420084G>T , CM000685.2:g.154420084G>T	GRCh38
NC_000023.10:g.153648423G>T , CM000685.1:g.153648423G>T	GRCh37
NC_000023.9:g.153301617G>T	NCBI36
NG_009634.1:g.13547G>T
NG_009634.2:g.13550G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1446G>T
ENST00000698317.1:n.2062G>T
ENST00000698318.1:n.1845G>T
ENST00000698319.1:n.1208G>T
ENST00000698320.1:n.1096G>T
ENST00000470127.2:n.1109G>T
ENST00000475699.6:c.600G>T	ENSP00000419854.3:p.Leu200=
ENST00000483674.3:n.518G>T
ENST00000601016.6:c.636G>T MANE Select	ENSP00000469981.1:p.Leu212=
ENST00000612012.5:c.594G>T	ENSP00000482070.2:p.Leu198=
ENST00000612460.5:c.546G>T	ENSP00000481037.1:p.Leu182=
ENST00000614595.2:n.1983G>T
ENST00000615658.5:n.1225G>T
ENST00000616020.5:c.648G>T	ENSP00000483636.2:p.Leu216=
ENST00000617701.5:c.*649G>T	ENSP00000481645.1:n.*649G>T
ENST00000652354.1:c.318G>T	ENSP00000498734.1:p.Leu106=
ENST00000652358.1:c.429G>T	ENSP00000498464.1:p.Leu143=
ENST00000652390.1:c.555G>T	ENSP00000498858.1:p.Leu185=
ENST00000652476.1:n.1302G>T
ENST00000652644.1:c.249G>T	ENSP00000498496.1:p.Leu83=
ENST00000652682.1:c.693G>T	ENSP00000498288.1:p.Leu231=
ENST00000652685.1:n.989G>T
ENST00000369776.8:c.429G>T	ENSP00000358791.4:p.Leu143=
ENST00000426231.5:c.633G>T
ENST00000439735.2:c.543G>T	ENSP00000398193.1:p.Leu181=
ENST00000470127.1:n.215G>T
ENST00000475699.5:c.594G>T	ENSP00000419854.2:p.Leu198=
ENST00000494912.5:n.1325G>T
ENST00000498029.1:n.94G>T
ENST00000601016.5:c.636G>T	ENSP00000469981.1:p.Leu212=
ENST00000612460.4:c.546G>T	ENSP00000481037.1:p.Leu182=
ENST00000613002.4:c.504G>T	ENSP00000478154.1:p.Leu168=
ENST00000615986.4:c.*364G>T	ENSP00000480133.1:n.*364G>T
NM_000116.4:c.636G>T	NP_000107.1:p.Leu212=
NM_001303465.1:c.648G>T	NP_001290394.1:p.Leu216=
NM_181311.3:c.546G>T	NP_851828.1:p.Leu182=
NM_181312.3:c.594G>T	NP_851829.1:p.Leu198=
NM_181313.3:c.504G>T	NP_851830.1:p.Leu168=
NR_024048.2:n.978G>T
XM_006724836.1:c.690G>T	XP_006724899.1:p.Leu230=
XM_006724837.1:c.558G>T	XP_006724900.1:p.Leu186=
XM_006724839.1:c.558G>T	XP_006724902.1:p.Leu186=
XM_006724841.2:c.429G>T	XP_006724904.1:p.Leu143=
XM_006724842.2:c.339G>T	XP_006724905.1:p.Leu113=
XM_011531189.1:c.477G>T	XP_011529491.1:p.Leu159=
XM_011531190.1:c.429G>T	XP_011529492.1:p.Leu143=
XM_011531191.1:c.360G>T	XP_011529493.1:p.Leu120=
XM_011531192.1:c.357G>T	XP_011529494.1:p.Leu119=
XR_938511.1:n.984G>T
XM_006724841.4:c.429G>T	XP_006724904.1:p.Leu143=
XM_006724842.4:c.339G>T	XP_006724905.1:p.Leu113=
XM_011531191.2:c.360G>T	XP_011529493.1:p.Leu120=
XM_017029761.1:c.504G>T	XP_016885250.1:p.Leu168=
XM_017029762.1:c.600G>T	XP_016885251.1:p.Leu200=
XM_017029763.1:c.423G>T	XP_016885252.1:p.Leu141=
XM_017029764.1:c.357G>T	XP_016885253.1:p.Leu119=
XM_017029765.2:c.297G>T	XP_016885254.1:p.Leu99=
XM_024452431.1:c.477G>T	XP_024308199.1:p.Leu159=
NM_000116.5:c.636G>T MANE Select	NP_000107.1:p.Leu212=
NM_001303465.2:c.648G>T	NP_001290394.1:p.Leu216=
NM_181311.4:c.546G>T	NP_851828.1:p.Leu182=
NM_181312.4:c.594G>T	NP_851829.1:p.Leu198=
NM_181313.4:c.504G>T	NP_851830.1:p.Leu168=
NR_024048.3:n.957G>T