Canonical Allele Identifier: CA415185362

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649010T>G (hg19) ; chrX:g.154420671T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420671T>G , CM000685.2:g.154420671T>G	GRCh38
NC_000023.10:g.153649010T>G , CM000685.1:g.153649010T>G	GRCh37
NC_000023.9:g.153302204T>G	NCBI36
NG_009634.1:g.14134T>G
NG_009634.2:g.14137T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1523T>G
ENST00000698317.1:n.2139T>G
ENST00000698318.1:n.1922T>G
ENST00000698319.1:n.1285T>G
ENST00000698320.1:n.1173T>G
ENST00000470127.2:n.1186T>G
ENST00000475699.6:c.677T>G	ENSP00000419854.3:p.Leu226Arg
ENST00000483674.3:n.595T>G
ENST00000601016.6:c.713T>G MANE Select	ENSP00000469981.1:p.Leu238Arg
ENST00000612012.5:c.671T>G	ENSP00000482070.2:p.Leu224Arg
ENST00000612460.5:c.623T>G	ENSP00000481037.1:p.Leu208Arg
ENST00000614595.2:n.2060T>G
ENST00000615658.5:n.1302T>G
ENST00000616020.5:c.725T>G	ENSP00000483636.2:p.Leu242Arg
ENST00000617701.5:c.*726T>G	ENSP00000481645.1:n.*726T>G
ENST00000651139.1:c.-71T>G	ENSP00000498957.1:n.-71T>G
ENST00000652354.1:c.395T>G	ENSP00000498734.1:p.Leu132Arg
ENST00000652358.1:c.506T>G	ENSP00000498464.1:p.Leu169Arg
ENST00000652390.1:c.632T>G	ENSP00000498858.1:p.Leu211Arg
ENST00000652476.1:n.1379T>G
ENST00000652644.1:c.326T>G	ENSP00000498496.1:p.Leu109Arg
ENST00000652682.1:c.770T>G	ENSP00000498288.1:p.Leu257Arg
ENST00000652685.1:n.1066T>G
ENST00000369776.8:c.623T>G	ENSP00000358791.4:p.Leu208Arg
ENST00000426231.5:c.710T>G
ENST00000475699.5:c.671T>G	ENSP00000419854.2:p.Leu224Arg
ENST00000494912.5:n.1402T>G
ENST00000498029.1:n.171T>G
ENST00000601016.5:c.713T>G	ENSP00000469981.1:p.Leu238Arg
ENST00000612460.4:c.623T>G	ENSP00000481037.1:p.Leu208Arg
ENST00000613002.4:c.581T>G	ENSP00000478154.1:p.Leu194Arg
ENST00000615986.4:c.*441T>G	ENSP00000480133.1:n.*441T>G
NM_000116.4:c.713T>G	NP_000107.1:p.Leu238Arg
NM_001303465.1:c.725T>G	NP_001290394.1:p.Leu242Arg
NM_181311.3:c.623T>G	NP_851828.1:p.Leu208Arg
NM_181312.3:c.671T>G	NP_851829.1:p.Leu224Arg
NM_181313.3:c.581T>G	NP_851830.1:p.Leu194Arg
NR_024048.2:n.1055T>G
XM_006724836.1:c.767T>G	XP_006724899.1:p.Leu256Arg
XM_006724837.1:c.752T>G	XP_006724900.1:p.Leu251Arg
XM_006724839.1:c.635T>G	XP_006724902.1:p.Leu212Arg
XM_006724841.2:c.506T>G	XP_006724904.1:p.Leu169Arg
XM_006724842.2:c.416T>G	XP_006724905.1:p.Leu139Arg
XM_011531189.1:c.554T>G	XP_011529491.1:p.Leu185Arg
XM_011531190.1:c.506T>G	XP_011529492.1:p.Leu169Arg
XM_011531191.1:c.437T>G	XP_011529493.1:p.Leu146Arg
XM_011531192.1:c.434T>G	XP_011529494.1:p.Leu145Arg
XR_938511.1:n.1061T>G
XM_006724841.4:c.506T>G	XP_006724904.1:p.Leu169Arg
XM_006724842.4:c.416T>G	XP_006724905.1:p.Leu139Arg
XM_011531191.2:c.437T>G	XP_011529493.1:p.Leu146Arg
XM_017029761.1:c.698T>G	XP_016885250.1:p.Leu233Arg
XM_017029762.1:c.677T>G	XP_016885251.1:p.Leu226Arg
XM_017029763.1:c.500T>G	XP_016885252.1:p.Leu167Arg
XM_017029764.1:c.434T>G	XP_016885253.1:p.Leu145Arg
XM_017029765.2:c.374T>G	XP_016885254.1:p.Leu125Arg
XM_024452431.1:c.671T>G	XP_024308199.1:p.Leu224Arg
NM_000116.5:c.713T>G MANE Select	NP_000107.1:p.Leu238Arg
NM_001303465.2:c.725T>G	NP_001290394.1:p.Leu242Arg
NM_181311.4:c.623T>G	NP_851828.1:p.Leu208Arg
NM_181312.4:c.671T>G	NP_851829.1:p.Leu224Arg
NM_181313.4:c.581T>G	NP_851830.1:p.Leu194Arg
NR_024048.3:n.1034T>G