Canonical Allele Identifier: CA415185452

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649046A>G (hg19) ; chrX:g.154420707A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420707A>G , CM000685.2:g.154420707A>G	GRCh38
NC_000023.10:g.153649046A>G , CM000685.1:g.153649046A>G	GRCh37
NC_000023.9:g.153302240A>G	NCBI36
NG_009634.1:g.14170A>G
NG_009634.2:g.14173A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1559A>G
ENST00000698317.1:n.2175A>G
ENST00000698318.1:n.1958A>G
ENST00000698319.1:n.1321A>G
ENST00000698320.1:n.1209A>G
ENST00000470127.2:n.1222A>G
ENST00000475699.6:c.713A>G	ENSP00000419854.3:p.Glu238Gly
ENST00000483674.3:n.631A>G
ENST00000601016.6:c.749A>G MANE Select	ENSP00000469981.1:p.Glu250Gly
ENST00000612012.5:c.707A>G	ENSP00000482070.2:p.Glu236Gly
ENST00000612460.5:c.659A>G	ENSP00000481037.1:p.Glu220Gly
ENST00000614595.2:n.2096A>G
ENST00000615658.5:n.1338A>G
ENST00000616020.5:c.761A>G	ENSP00000483636.2:p.Glu254Gly
ENST00000617701.5:c.*762A>G	ENSP00000481645.1:n.*762A>G
ENST00000651139.1:c.-35A>G	ENSP00000498957.1:n.-35A>G
ENST00000652354.1:c.431A>G	ENSP00000498734.1:p.Glu144Gly
ENST00000652358.1:c.542A>G	ENSP00000498464.1:p.Glu181Gly
ENST00000652390.1:c.668A>G	ENSP00000498858.1:p.Glu223Gly
ENST00000652476.1:n.1415A>G
ENST00000652644.1:c.362A>G	ENSP00000498496.1:p.Glu121Gly
ENST00000652682.1:c.806A>G	ENSP00000498288.1:p.Glu269Gly
ENST00000652685.1:n.1102A>G
ENST00000369776.8:c.659A>G	ENSP00000358791.4:p.Glu220Gly
ENST00000426231.5:c.746A>G
ENST00000475699.5:c.707A>G	ENSP00000419854.2:p.Glu236Gly
ENST00000494912.5:n.1438A>G
ENST00000498029.1:n.207A>G
ENST00000601016.5:c.749A>G	ENSP00000469981.1:p.Glu250Gly
ENST00000612460.4:c.659A>G	ENSP00000481037.1:p.Glu220Gly
ENST00000613002.4:c.617A>G	ENSP00000478154.1:p.Glu206Gly
ENST00000615986.4:c.*477A>G	ENSP00000480133.1:n.*477A>G
NM_000116.4:c.749A>G	NP_000107.1:p.Glu250Gly
NM_001303465.1:c.761A>G	NP_001290394.1:p.Glu254Gly
NM_181311.3:c.659A>G	NP_851828.1:p.Glu220Gly
NM_181312.3:c.707A>G	NP_851829.1:p.Glu236Gly
NM_181313.3:c.617A>G	NP_851830.1:p.Glu206Gly
NR_024048.2:n.1091A>G
XM_006724836.1:c.803A>G	XP_006724899.1:p.Glu268Gly
XM_006724837.1:c.788A>G	XP_006724900.1:p.Glu263Gly
XM_006724839.1:c.671A>G	XP_006724902.1:p.Glu224Gly
XM_006724841.2:c.542A>G	XP_006724904.1:p.Glu181Gly
XM_006724842.2:c.452A>G	XP_006724905.1:p.Glu151Gly
XM_011531189.1:c.590A>G	XP_011529491.1:p.Glu197Gly
XM_011531190.1:c.542A>G	XP_011529492.1:p.Glu181Gly
XM_011531191.1:c.473A>G	XP_011529493.1:p.Glu158Gly
XM_011531192.1:c.470A>G	XP_011529494.1:p.Glu157Gly
XR_938511.1:n.1097A>G
XM_006724841.4:c.542A>G	XP_006724904.1:p.Glu181Gly
XM_006724842.4:c.452A>G	XP_006724905.1:p.Glu151Gly
XM_011531191.2:c.473A>G	XP_011529493.1:p.Glu158Gly
XM_017029761.1:c.734A>G	XP_016885250.1:p.Glu245Gly
XM_017029762.1:c.713A>G	XP_016885251.1:p.Glu238Gly
XM_017029763.1:c.536A>G	XP_016885252.1:p.Glu179Gly
XM_017029764.1:c.470A>G	XP_016885253.1:p.Glu157Gly
XM_017029765.2:c.410A>G	XP_016885254.1:p.Glu137Gly
XM_024452431.1:c.707A>G	XP_024308199.1:p.Glu236Gly
NM_000116.5:c.749A>G MANE Select	NP_000107.1:p.Glu250Gly
NM_001303465.2:c.761A>G	NP_001290394.1:p.Glu254Gly
NM_181311.4:c.659A>G	NP_851828.1:p.Glu220Gly
NM_181312.4:c.707A>G	NP_851829.1:p.Glu236Gly
NM_181313.4:c.617A>G	NP_851830.1:p.Glu206Gly
NR_024048.3:n.1070A>G