Canonical Allele Identifier: CA519278270

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649041A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420702A>C , CM000685.2:g.154420702A>C	GRCh38
NC_000023.10:g.153649041A>C , CM000685.1:g.153649041A>C	GRCh37
NC_000023.9:g.153302235A>C	NCBI36
NG_009634.1:g.14165A>C
NG_009634.2:g.14168A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1554A>C
ENST00000698317.1:n.2170A>C
ENST00000698318.1:n.1953A>C
ENST00000698319.1:n.1316A>C
ENST00000698320.1:n.1204A>C
ENST00000470127.2:n.1217A>C
ENST00000475699.6:c.708A>C	ENSP00000419854.3:p.Val236=
ENST00000483674.3:n.626A>C
ENST00000601016.6:c.744A>C MANE Select	ENSP00000469981.1:p.Val248=
ENST00000612012.5:c.702A>C	ENSP00000482070.2:p.Val234=
ENST00000612460.5:c.654A>C	ENSP00000481037.1:p.Val218=
ENST00000614595.2:n.2091A>C
ENST00000615658.5:n.1333A>C
ENST00000616020.5:c.756A>C	ENSP00000483636.2:p.Val252=
ENST00000617701.5:c.*757A>C	ENSP00000481645.1:n.*757A>C
ENST00000651139.1:c.-40A>C	ENSP00000498957.1:n.-40A>C
ENST00000652354.1:c.426A>C	ENSP00000498734.1:p.Val142=
ENST00000652358.1:c.537A>C	ENSP00000498464.1:p.Val179=
ENST00000652390.1:c.663A>C	ENSP00000498858.1:p.Val221=
ENST00000652476.1:n.1410A>C
ENST00000652644.1:c.357A>C	ENSP00000498496.1:p.Val119=
ENST00000652682.1:c.801A>C	ENSP00000498288.1:p.Val267=
ENST00000652685.1:n.1097A>C
ENST00000369776.8:c.654A>C	ENSP00000358791.4:p.Val218=
ENST00000426231.5:c.741A>C
ENST00000475699.5:c.702A>C	ENSP00000419854.2:p.Val234=
ENST00000494912.5:n.1433A>C
ENST00000498029.1:n.202A>C
ENST00000601016.5:c.744A>C	ENSP00000469981.1:p.Val248=
ENST00000612460.4:c.654A>C	ENSP00000481037.1:p.Val218=
ENST00000613002.4:c.612A>C	ENSP00000478154.1:p.Val204=
ENST00000615986.4:c.*472A>C	ENSP00000480133.1:n.*472A>C
NM_000116.4:c.744A>C	NP_000107.1:p.Val248=
NM_001303465.1:c.756A>C	NP_001290394.1:p.Val252=
NM_181311.3:c.654A>C	NP_851828.1:p.Val218=
NM_181312.3:c.702A>C	NP_851829.1:p.Val234=
NM_181313.3:c.612A>C	NP_851830.1:p.Val204=
NR_024048.2:n.1086A>C
XM_006724836.1:c.798A>C	XP_006724899.1:p.Val266=
XM_006724837.1:c.783A>C	XP_006724900.1:p.Val261=
XM_006724839.1:c.666A>C	XP_006724902.1:p.Val222=
XM_006724841.2:c.537A>C	XP_006724904.1:p.Val179=
XM_006724842.2:c.447A>C	XP_006724905.1:p.Val149=
XM_011531189.1:c.585A>C	XP_011529491.1:p.Val195=
XM_011531190.1:c.537A>C	XP_011529492.1:p.Val179=
XM_011531191.1:c.468A>C	XP_011529493.1:p.Val156=
XM_011531192.1:c.465A>C	XP_011529494.1:p.Val155=
XR_938511.1:n.1092A>C
XM_006724841.4:c.537A>C	XP_006724904.1:p.Val179=
XM_006724842.4:c.447A>C	XP_006724905.1:p.Val149=
XM_011531191.2:c.468A>C	XP_011529493.1:p.Val156=
XM_017029761.1:c.729A>C	XP_016885250.1:p.Val243=
XM_017029762.1:c.708A>C	XP_016885251.1:p.Val236=
XM_017029763.1:c.531A>C	XP_016885252.1:p.Val177=
XM_017029764.1:c.465A>C	XP_016885253.1:p.Val155=
XM_017029765.2:c.405A>C	XP_016885254.1:p.Val135=
XM_024452431.1:c.702A>C	XP_024308199.1:p.Val234=
NM_000116.5:c.744A>C MANE Select	NP_000107.1:p.Val248=
NM_001303465.2:c.756A>C	NP_001290394.1:p.Val252=
NM_181311.4:c.654A>C	NP_851828.1:p.Val218=
NM_181312.4:c.702A>C	NP_851829.1:p.Val234=
NM_181313.4:c.612A>C	NP_851830.1:p.Val204=
NR_024048.3:n.1065A>C