Canonical Allele Identifier: CA415184136

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648383T>G (hg19) ; chrX:g.154420044T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420044T>G , CM000685.2:g.154420044T>G	GRCh38
NC_000023.10:g.153648383T>G , CM000685.1:g.153648383T>G	GRCh37
NC_000023.9:g.153301577T>G	NCBI36
NG_009634.1:g.13507T>G
NG_009634.2:g.13510T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1406T>G
ENST00000698317.1:n.2022T>G
ENST00000698318.1:n.1805T>G
ENST00000698319.1:n.1168T>G
ENST00000698320.1:n.1056T>G
ENST00000470127.2:n.1069T>G
ENST00000475699.6:c.560T>G	ENSP00000419854.3:p.Leu187Arg
ENST00000483674.3:n.478T>G
ENST00000601016.6:c.596T>G MANE Select	ENSP00000469981.1:p.Leu199Arg
ENST00000612012.5:c.554T>G	ENSP00000482070.2:p.Leu185Arg
ENST00000612460.5:c.506T>G	ENSP00000481037.1:p.Leu169Arg
ENST00000614595.2:n.1943T>G
ENST00000615658.5:n.1185T>G
ENST00000616020.5:c.608T>G	ENSP00000483636.2:p.Leu203Arg
ENST00000617701.5:c.*609T>G	ENSP00000481645.1:n.*609T>G
ENST00000652354.1:c.278T>G	ENSP00000498734.1:p.Leu93Arg
ENST00000652358.1:c.389T>G	ENSP00000498464.1:p.Leu130Arg
ENST00000652390.1:c.515T>G	ENSP00000498858.1:p.Leu172Arg
ENST00000652476.1:n.1262T>G
ENST00000652644.1:c.209T>G	ENSP00000498496.1:p.Leu70Arg
ENST00000652682.1:c.653T>G	ENSP00000498288.1:p.Leu218Arg
ENST00000652685.1:n.949T>G
ENST00000369776.8:c.389T>G	ENSP00000358791.4:p.Leu130Arg
ENST00000426231.5:c.593T>G
ENST00000439735.2:c.503T>G	ENSP00000398193.1:p.Leu168Arg
ENST00000470127.1:n.175T>G
ENST00000475699.5:c.554T>G	ENSP00000419854.2:p.Leu185Arg
ENST00000494912.5:n.1285T>G
ENST00000498029.1:n.54T>G
ENST00000601016.5:c.596T>G	ENSP00000469981.1:p.Leu199Arg
ENST00000612012.4:c.560T>G	ENSP00000482070.1:p.Leu187Arg
ENST00000612460.4:c.506T>G	ENSP00000481037.1:p.Leu169Arg
ENST00000613002.4:c.464T>G	ENSP00000478154.1:p.Leu155Arg
ENST00000615658.4:n.1285T>G
ENST00000615986.4:c.*324T>G	ENSP00000480133.1:n.*324T>G
ENST00000620808.4:c.*182T>G	ENSP00000479311.1:n.*182T>G
NM_000116.4:c.596T>G	NP_000107.1:p.Leu199Arg
NM_001303465.1:c.608T>G	NP_001290394.1:p.Leu203Arg
NM_181311.3:c.506T>G	NP_851828.1:p.Leu169Arg
NM_181312.3:c.554T>G	NP_851829.1:p.Leu185Arg
NM_181313.3:c.464T>G	NP_851830.1:p.Leu155Arg
NR_024048.2:n.938T>G
XM_006724836.1:c.650T>G	XP_006724899.1:p.Leu217Arg
XM_006724837.1:c.518T>G	XP_006724900.1:p.Leu173Arg
XM_006724839.1:c.518T>G	XP_006724902.1:p.Leu173Arg
XM_006724841.2:c.389T>G	XP_006724904.1:p.Leu130Arg
XM_006724842.2:c.299T>G	XP_006724905.1:p.Leu100Arg
XM_011531189.1:c.437T>G	XP_011529491.1:p.Leu146Arg
XM_011531190.1:c.389T>G	XP_011529492.1:p.Leu130Arg
XM_011531191.1:c.320T>G	XP_011529493.1:p.Leu107Arg
XM_011531192.1:c.317T>G	XP_011529494.1:p.Leu106Arg
XR_938511.1:n.944T>G
XM_006724841.4:c.389T>G	XP_006724904.1:p.Leu130Arg
XM_006724842.4:c.299T>G	XP_006724905.1:p.Leu100Arg
XM_011531191.2:c.320T>G	XP_011529493.1:p.Leu107Arg
XM_017029761.1:c.464T>G	XP_016885250.1:p.Leu155Arg
XM_017029762.1:c.560T>G	XP_016885251.1:p.Leu187Arg
XM_017029763.1:c.383T>G	XP_016885252.1:p.Leu128Arg
XM_017029764.1:c.317T>G	XP_016885253.1:p.Leu106Arg
XM_017029765.2:c.257T>G	XP_016885254.1:p.Leu86Arg
XM_024452431.1:c.437T>G	XP_024308199.1:p.Leu146Arg
NM_000116.5:c.596T>G MANE Select	NP_000107.1:p.Leu199Arg
NM_001303465.2:c.608T>G	NP_001290394.1:p.Leu203Arg
NM_181311.4:c.506T>G	NP_851828.1:p.Leu169Arg
NM_181312.4:c.554T>G	NP_851829.1:p.Leu185Arg
NM_181313.4:c.464T>G	NP_851830.1:p.Leu155Arg
NR_024048.3:n.917T>G