Canonical Allele Identifier: CA415185324

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649000A>C (hg19) ; chrX:g.154420661A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420661A>C , CM000685.2:g.154420661A>C	GRCh38
NC_000023.10:g.153649000A>C , CM000685.1:g.153649000A>C	GRCh37
NC_000023.9:g.153302194A>C	NCBI36
NG_009634.1:g.14124A>C
NG_009634.2:g.14127A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1513A>C
ENST00000698317.1:n.2129A>C
ENST00000698318.1:n.1912A>C
ENST00000698319.1:n.1275A>C
ENST00000698320.1:n.1163A>C
ENST00000470127.2:n.1176A>C
ENST00000475699.6:c.667A>C	ENSP00000419854.3:p.Ile223Leu
ENST00000483674.3:n.585A>C
ENST00000601016.6:c.703A>C MANE Select	ENSP00000469981.1:p.Ile235Leu
ENST00000612012.5:c.661A>C	ENSP00000482070.2:p.Ile221Leu
ENST00000612460.5:c.613A>C	ENSP00000481037.1:p.Ile205Leu
ENST00000614595.2:n.2050A>C
ENST00000615658.5:n.1292A>C
ENST00000616020.5:c.715A>C	ENSP00000483636.2:p.Ile239Leu
ENST00000617701.5:c.*716A>C	ENSP00000481645.1:n.*716A>C
ENST00000651139.1:c.-81A>C	ENSP00000498957.1:n.-81A>C
ENST00000652354.1:c.385A>C	ENSP00000498734.1:p.Ile129Leu
ENST00000652358.1:c.496A>C	ENSP00000498464.1:p.Ile166Leu
ENST00000652390.1:c.622A>C	ENSP00000498858.1:p.Ile208Leu
ENST00000652476.1:n.1369A>C
ENST00000652644.1:c.316A>C	ENSP00000498496.1:p.Ile106Leu
ENST00000652682.1:c.760A>C	ENSP00000498288.1:p.Ile254Leu
ENST00000652685.1:n.1056A>C
ENST00000369776.8:c.613A>C	ENSP00000358791.4:p.Ile205Leu
ENST00000426231.5:c.700A>C
ENST00000475699.5:c.661A>C	ENSP00000419854.2:p.Ile221Leu
ENST00000494912.5:n.1392A>C
ENST00000498029.1:n.161A>C
ENST00000601016.5:c.703A>C	ENSP00000469981.1:p.Ile235Leu
ENST00000612460.4:c.613A>C	ENSP00000481037.1:p.Ile205Leu
ENST00000613002.4:c.571A>C	ENSP00000478154.1:p.Ile191Leu
ENST00000615986.4:c.*431A>C	ENSP00000480133.1:n.*431A>C
NM_000116.4:c.703A>C	NP_000107.1:p.Ile235Leu
NM_001303465.1:c.715A>C	NP_001290394.1:p.Ile239Leu
NM_181311.3:c.613A>C	NP_851828.1:p.Ile205Leu
NM_181312.3:c.661A>C	NP_851829.1:p.Ile221Leu
NM_181313.3:c.571A>C	NP_851830.1:p.Ile191Leu
NR_024048.2:n.1045A>C
XM_006724836.1:c.757A>C	XP_006724899.1:p.Ile253Leu
XM_006724837.1:c.742A>C	XP_006724900.1:p.Ile248Leu
XM_006724839.1:c.625A>C	XP_006724902.1:p.Ile209Leu
XM_006724841.2:c.496A>C	XP_006724904.1:p.Ile166Leu
XM_006724842.2:c.406A>C	XP_006724905.1:p.Ile136Leu
XM_011531189.1:c.544A>C	XP_011529491.1:p.Ile182Leu
XM_011531190.1:c.496A>C	XP_011529492.1:p.Ile166Leu
XM_011531191.1:c.427A>C	XP_011529493.1:p.Ile143Leu
XM_011531192.1:c.424A>C	XP_011529494.1:p.Ile142Leu
XR_938511.1:n.1051A>C
XM_006724841.4:c.496A>C	XP_006724904.1:p.Ile166Leu
XM_006724842.4:c.406A>C	XP_006724905.1:p.Ile136Leu
XM_011531191.2:c.427A>C	XP_011529493.1:p.Ile143Leu
XM_017029761.1:c.688A>C	XP_016885250.1:p.Ile230Leu
XM_017029762.1:c.667A>C	XP_016885251.1:p.Ile223Leu
XM_017029763.1:c.490A>C	XP_016885252.1:p.Ile164Leu
XM_017029764.1:c.424A>C	XP_016885253.1:p.Ile142Leu
XM_017029765.2:c.364A>C	XP_016885254.1:p.Ile122Leu
XM_024452431.1:c.661A>C	XP_024308199.1:p.Ile221Leu
NM_000116.5:c.703A>C MANE Select	NP_000107.1:p.Ile235Leu
NM_001303465.2:c.715A>C	NP_001290394.1:p.Ile239Leu
NM_181311.4:c.613A>C	NP_851828.1:p.Ile205Leu
NM_181312.4:c.661A>C	NP_851829.1:p.Ile221Leu
NM_181313.4:c.571A>C	NP_851830.1:p.Ile191Leu
NR_024048.3:n.1024A>C