Canonical Allele Identifier: CA519278134

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648567T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420228T>A , CM000685.2:g.154420228T>A	GRCh38
NC_000023.10:g.153648567T>A , CM000685.1:g.153648567T>A	GRCh37
NC_000023.9:g.153301761T>A	NCBI36
NG_009634.1:g.13691T>A
NG_009634.2:g.13694T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1473T>A
ENST00000698317.1:n.2089T>A
ENST00000698318.1:n.1872T>A
ENST00000698319.1:n.1235T>A
ENST00000698320.1:n.1123T>A
ENST00000470127.2:n.1136T>A
ENST00000475699.6:c.627T>A	ENSP00000419854.3:p.Leu209=
ENST00000483674.3:n.545T>A
ENST00000601016.6:c.663T>A MANE Select	ENSP00000469981.1:p.Leu221=
ENST00000612012.5:c.621T>A	ENSP00000482070.2:p.Leu207=
ENST00000612460.5:c.573T>A	ENSP00000481037.1:p.Leu191=
ENST00000614595.2:n.2010T>A
ENST00000615658.5:n.1252T>A
ENST00000616020.5:c.675T>A	ENSP00000483636.2:p.Leu225=
ENST00000617701.5:c.*676T>A	ENSP00000481645.1:n.*676T>A
ENST00000652354.1:c.345T>A	ENSP00000498734.1:p.Leu115=
ENST00000652358.1:c.456T>A	ENSP00000498464.1:p.Leu152=
ENST00000652390.1:c.582T>A	ENSP00000498858.1:p.Leu194=
ENST00000652476.1:n.1329T>A
ENST00000652644.1:c.276T>A	ENSP00000498496.1:p.Leu92=
ENST00000652682.1:c.720T>A	ENSP00000498288.1:p.Leu240=
ENST00000652685.1:n.1016T>A
ENST00000369776.8:c.573T>A	ENSP00000358791.4:p.Leu191=
ENST00000426231.5:c.660T>A
ENST00000475699.5:c.621T>A	ENSP00000419854.2:p.Leu207=
ENST00000494912.5:n.1352T>A
ENST00000498029.1:n.121T>A
ENST00000601016.5:c.663T>A	ENSP00000469981.1:p.Leu221=
ENST00000612460.4:c.573T>A	ENSP00000481037.1:p.Leu191=
ENST00000613002.4:c.531T>A	ENSP00000478154.1:p.Leu177=
ENST00000615986.4:c.*391T>A	ENSP00000480133.1:n.*391T>A
NM_000116.4:c.663T>A	NP_000107.1:p.Leu221=
NM_001303465.1:c.675T>A	NP_001290394.1:p.Leu225=
NM_181311.3:c.573T>A	NP_851828.1:p.Leu191=
NM_181312.3:c.621T>A	NP_851829.1:p.Leu207=
NM_181313.3:c.531T>A	NP_851830.1:p.Leu177=
NR_024048.2:n.1005T>A
XM_006724836.1:c.717T>A	XP_006724899.1:p.Leu239=
XM_006724837.1:c.702T>A	XP_006724900.1:p.Leu234=
XM_006724839.1:c.585T>A	XP_006724902.1:p.Leu195=
XM_006724841.2:c.456T>A	XP_006724904.1:p.Leu152=
XM_006724842.2:c.366T>A	XP_006724905.1:p.Leu122=
XM_011531189.1:c.504T>A	XP_011529491.1:p.Leu168=
XM_011531190.1:c.456T>A	XP_011529492.1:p.Leu152=
XM_011531191.1:c.387T>A	XP_011529493.1:p.Leu129=
XM_011531192.1:c.384T>A	XP_011529494.1:p.Leu128=
XR_938511.1:n.1011T>A
XM_006724841.4:c.456T>A	XP_006724904.1:p.Leu152=
XM_006724842.4:c.366T>A	XP_006724905.1:p.Leu122=
XM_011531191.2:c.387T>A	XP_011529493.1:p.Leu129=
XM_017029761.1:c.648T>A	XP_016885250.1:p.Leu216=
XM_017029762.1:c.627T>A	XP_016885251.1:p.Leu209=
XM_017029763.1:c.450T>A	XP_016885252.1:p.Leu150=
XM_017029764.1:c.384T>A	XP_016885253.1:p.Leu128=
XM_017029765.2:c.324T>A	XP_016885254.1:p.Leu108=
XM_024452431.1:c.621T>A	XP_024308199.1:p.Leu207=
NM_000116.5:c.663T>A MANE Select	NP_000107.1:p.Leu221=
NM_001303465.2:c.675T>A	NP_001290394.1:p.Leu225=
NM_181311.4:c.573T>A	NP_851828.1:p.Leu191=
NM_181312.4:c.621T>A	NP_851829.1:p.Leu207=
NM_181313.4:c.531T>A	NP_851830.1:p.Leu177=
NR_024048.3:n.984T>A