Canonical Allele Identifier: CA519278292

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649056G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420717G>T , CM000685.2:g.154420717G>T	GRCh38
NC_000023.10:g.153649056G>T , CM000685.1:g.153649056G>T	GRCh37
NC_000023.9:g.153302250G>T	NCBI36
NG_009634.1:g.14180G>T
NG_009634.2:g.14183G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1569G>T
ENST00000698317.1:n.2185G>T
ENST00000698318.1:n.1968G>T
ENST00000698319.1:n.1331G>T
ENST00000698320.1:n.1219G>T
ENST00000470127.2:n.1232G>T
ENST00000475699.6:c.723G>T	ENSP00000419854.3:p.Arg241=
ENST00000483674.3:n.641G>T
ENST00000601016.6:c.759G>T MANE Select	ENSP00000469981.1:p.Arg253=
ENST00000612012.5:c.717G>T	ENSP00000482070.2:p.Arg239=
ENST00000612460.5:c.669G>T	ENSP00000481037.1:p.Arg223=
ENST00000614595.2:n.2106G>T
ENST00000615658.5:n.1348G>T
ENST00000616020.5:c.771G>T	ENSP00000483636.2:p.Arg257=
ENST00000617701.5:c.*772G>T	ENSP00000481645.1:n.*772G>T
ENST00000651139.1:c.-25G>T	ENSP00000498957.1:n.-25G>T
ENST00000652354.1:c.441G>T	ENSP00000498734.1:p.Arg147=
ENST00000652358.1:c.552G>T	ENSP00000498464.1:p.Arg184=
ENST00000652390.1:c.678G>T	ENSP00000498858.1:p.Arg226=
ENST00000652476.1:n.1425G>T
ENST00000652644.1:c.372G>T	ENSP00000498496.1:p.Arg124=
ENST00000652682.1:c.816G>T	ENSP00000498288.1:p.Arg272=
ENST00000652685.1:n.1112G>T
ENST00000369776.8:c.669G>T	ENSP00000358791.4:p.Arg223=
ENST00000426231.5:c.756G>T
ENST00000475699.5:c.717G>T	ENSP00000419854.2:p.Arg239=
ENST00000494912.5:n.1448G>T
ENST00000498029.1:n.217G>T
ENST00000601016.5:c.759G>T	ENSP00000469981.1:p.Arg253=
ENST00000612460.4:c.669G>T	ENSP00000481037.1:p.Arg223=
ENST00000613002.4:c.627G>T	ENSP00000478154.1:p.Arg209=
ENST00000615986.4:c.*487G>T	ENSP00000480133.1:n.*487G>T
NM_000116.4:c.759G>T	NP_000107.1:p.Arg253=
NM_001303465.1:c.771G>T	NP_001290394.1:p.Arg257=
NM_181311.3:c.669G>T	NP_851828.1:p.Arg223=
NM_181312.3:c.717G>T	NP_851829.1:p.Arg239=
NM_181313.3:c.627G>T	NP_851830.1:p.Arg209=
NR_024048.2:n.1101G>T
XM_006724836.1:c.813G>T	XP_006724899.1:p.Arg271=
XM_006724837.1:c.798G>T	XP_006724900.1:p.Arg266=
XM_006724839.1:c.681G>T	XP_006724902.1:p.Arg227=
XM_006724841.2:c.552G>T	XP_006724904.1:p.Arg184=
XM_006724842.2:c.462G>T	XP_006724905.1:p.Arg154=
XM_011531189.1:c.600G>T	XP_011529491.1:p.Arg200=
XM_011531190.1:c.552G>T	XP_011529492.1:p.Arg184=
XM_011531191.1:c.483G>T	XP_011529493.1:p.Arg161=
XM_011531192.1:c.480G>T	XP_011529494.1:p.Arg160=
XR_938511.1:n.1107G>T
XM_006724841.4:c.552G>T	XP_006724904.1:p.Arg184=
XM_006724842.4:c.462G>T	XP_006724905.1:p.Arg154=
XM_011531191.2:c.483G>T	XP_011529493.1:p.Arg161=
XM_017029761.1:c.744G>T	XP_016885250.1:p.Arg248=
XM_017029762.1:c.723G>T	XP_016885251.1:p.Arg241=
XM_017029763.1:c.546G>T	XP_016885252.1:p.Arg182=
XM_017029764.1:c.480G>T	XP_016885253.1:p.Arg160=
XM_017029765.2:c.420G>T	XP_016885254.1:p.Arg140=
XM_024452431.1:c.717G>T	XP_024308199.1:p.Arg239=
NM_000116.5:c.759G>T MANE Select	NP_000107.1:p.Arg253=
NM_001303465.2:c.771G>T	NP_001290394.1:p.Arg257=
NM_181311.4:c.669G>T	NP_851828.1:p.Arg223=
NM_181312.4:c.717G>T	NP_851829.1:p.Arg239=
NM_181313.4:c.627G>T	NP_851830.1:p.Arg209=
NR_024048.3:n.1080G>T