Canonical Allele Identifier: CA415184379

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648422T>A (hg19) ; chrX:g.154420083T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420083T>A , CM000685.2:g.154420083T>A	GRCh38
NC_000023.10:g.153648422T>A , CM000685.1:g.153648422T>A	GRCh37
NC_000023.9:g.153301616T>A	NCBI36
NG_009634.1:g.13546T>A
NG_009634.2:g.13549T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1445T>A
ENST00000698317.1:n.2061T>A
ENST00000698318.1:n.1844T>A
ENST00000698319.1:n.1207T>A
ENST00000698320.1:n.1095T>A
ENST00000470127.2:n.1108T>A
ENST00000475699.6:c.599T>A	ENSP00000419854.3:p.Leu200Gln
ENST00000483674.3:n.517T>A
ENST00000601016.6:c.635T>A MANE Select	ENSP00000469981.1:p.Leu212Gln
ENST00000612012.5:c.593T>A	ENSP00000482070.2:p.Leu198Gln
ENST00000612460.5:c.545T>A	ENSP00000481037.1:p.Leu182Gln
ENST00000614595.2:n.1982T>A
ENST00000615658.5:n.1224T>A
ENST00000616020.5:c.647T>A	ENSP00000483636.2:p.Leu216Gln
ENST00000617701.5:c.*648T>A	ENSP00000481645.1:n.*648T>A
ENST00000652354.1:c.317T>A	ENSP00000498734.1:p.Leu106Gln
ENST00000652358.1:c.428T>A	ENSP00000498464.1:p.Leu143Gln
ENST00000652390.1:c.554T>A	ENSP00000498858.1:p.Leu185Gln
ENST00000652476.1:n.1301T>A
ENST00000652644.1:c.248T>A	ENSP00000498496.1:p.Leu83Gln
ENST00000652682.1:c.692T>A	ENSP00000498288.1:p.Leu231Gln
ENST00000652685.1:n.988T>A
ENST00000369776.8:c.428T>A	ENSP00000358791.4:p.Leu143Gln
ENST00000426231.5:c.632T>A
ENST00000439735.2:c.542T>A	ENSP00000398193.1:p.Leu181Gln
ENST00000470127.1:n.214T>A
ENST00000475699.5:c.593T>A	ENSP00000419854.2:p.Leu198Gln
ENST00000494912.5:n.1324T>A
ENST00000498029.1:n.93T>A
ENST00000601016.5:c.635T>A	ENSP00000469981.1:p.Leu212Gln
ENST00000612460.4:c.545T>A	ENSP00000481037.1:p.Leu182Gln
ENST00000613002.4:c.503T>A	ENSP00000478154.1:p.Leu168Gln
ENST00000615986.4:c.*363T>A	ENSP00000480133.1:n.*363T>A
NM_000116.4:c.635T>A	NP_000107.1:p.Leu212Gln
NM_001303465.1:c.647T>A	NP_001290394.1:p.Leu216Gln
NM_181311.3:c.545T>A	NP_851828.1:p.Leu182Gln
NM_181312.3:c.593T>A	NP_851829.1:p.Leu198Gln
NM_181313.3:c.503T>A	NP_851830.1:p.Leu168Gln
NR_024048.2:n.977T>A
XM_006724836.1:c.689T>A	XP_006724899.1:p.Leu230Gln
XM_006724837.1:c.557T>A	XP_006724900.1:p.Leu186Gln
XM_006724839.1:c.557T>A	XP_006724902.1:p.Leu186Gln
XM_006724841.2:c.428T>A	XP_006724904.1:p.Leu143Gln
XM_006724842.2:c.338T>A	XP_006724905.1:p.Leu113Gln
XM_011531189.1:c.476T>A	XP_011529491.1:p.Leu159Gln
XM_011531190.1:c.428T>A	XP_011529492.1:p.Leu143Gln
XM_011531191.1:c.359T>A	XP_011529493.1:p.Leu120Gln
XM_011531192.1:c.356T>A	XP_011529494.1:p.Leu119Gln
XR_938511.1:n.983T>A
XM_006724841.4:c.428T>A	XP_006724904.1:p.Leu143Gln
XM_006724842.4:c.338T>A	XP_006724905.1:p.Leu113Gln
XM_011531191.2:c.359T>A	XP_011529493.1:p.Leu120Gln
XM_017029761.1:c.503T>A	XP_016885250.1:p.Leu168Gln
XM_017029762.1:c.599T>A	XP_016885251.1:p.Leu200Gln
XM_017029763.1:c.422T>A	XP_016885252.1:p.Leu141Gln
XM_017029764.1:c.356T>A	XP_016885253.1:p.Leu119Gln
XM_017029765.2:c.296T>A	XP_016885254.1:p.Leu99Gln
XM_024452431.1:c.476T>A	XP_024308199.1:p.Leu159Gln
NM_000116.5:c.635T>A MANE Select	NP_000107.1:p.Leu212Gln
NM_001303465.2:c.647T>A	NP_001290394.1:p.Leu216Gln
NM_181311.4:c.545T>A	NP_851828.1:p.Leu182Gln
NM_181312.4:c.593T>A	NP_851829.1:p.Leu198Gln
NM_181313.4:c.503T>A	NP_851830.1:p.Leu168Gln
NR_024048.3:n.956T>A