Canonical Allele Identifier: CA415185454

Gene: TAFAZZIN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1559A>C
ENST00000698317.1:n.2175A>C
ENST00000698318.1:n.1958A>C
ENST00000698319.1:n.1321A>C
ENST00000698320.1:n.1209A>C
ENST00000470127.2:n.1222A>C
ENST00000475699.6:c.713A>C	ENSP00000419854.3:p.Glu238Ala
ENST00000483674.3:n.631A>C
ENST00000601016.6:c.749A>C MANE Select	ENSP00000469981.1:p.Glu250Ala
ENST00000612012.5:c.707A>C	ENSP00000482070.2:p.Glu236Ala
ENST00000612460.5:c.659A>C	ENSP00000481037.1:p.Glu220Ala
ENST00000614595.2:n.2096A>C
ENST00000615658.5:n.1338A>C
ENST00000616020.5:c.761A>C	ENSP00000483636.2:p.Glu254Ala
ENST00000617701.5:c.*762A>C	ENSP00000481645.1:n.*762A>C
ENST00000651139.1:c.-35A>C	ENSP00000498957.1:n.-35A>C
ENST00000652354.1:c.431A>C	ENSP00000498734.1:p.Glu144Ala
ENST00000652358.1:c.542A>C	ENSP00000498464.1:p.Glu181Ala
ENST00000652390.1:c.668A>C	ENSP00000498858.1:p.Glu223Ala
ENST00000652476.1:n.1415A>C
ENST00000652644.1:c.362A>C	ENSP00000498496.1:p.Glu121Ala
ENST00000652682.1:c.806A>C	ENSP00000498288.1:p.Glu269Ala
ENST00000652685.1:n.1102A>C
ENST00000369776.8:c.659A>C	ENSP00000358791.4:p.Glu220Ala
ENST00000426231.5:c.746A>C
ENST00000475699.5:c.707A>C	ENSP00000419854.2:p.Glu236Ala
ENST00000494912.5:n.1438A>C
ENST00000498029.1:n.207A>C
ENST00000601016.5:c.749A>C	ENSP00000469981.1:p.Glu250Ala
ENST00000612460.4:c.659A>C	ENSP00000481037.1:p.Glu220Ala
ENST00000613002.4:c.617A>C	ENSP00000478154.1:p.Glu206Ala
ENST00000615986.4:c.*477A>C	ENSP00000480133.1:n.*477A>C
NM_000116.4:c.749A>C	NP_000107.1:p.Glu250Ala
NM_001303465.1:c.761A>C	NP_001290394.1:p.Glu254Ala
NM_181311.3:c.659A>C	NP_851828.1:p.Glu220Ala
NM_181312.3:c.707A>C	NP_851829.1:p.Glu236Ala
NM_181313.3:c.617A>C	NP_851830.1:p.Glu206Ala
NR_024048.2:n.1091A>C
XM_006724836.1:c.803A>C	XP_006724899.1:p.Glu268Ala
XM_006724837.1:c.788A>C	XP_006724900.1:p.Glu263Ala
XM_006724839.1:c.671A>C	XP_006724902.1:p.Glu224Ala
XM_006724841.2:c.542A>C	XP_006724904.1:p.Glu181Ala
XM_006724842.2:c.452A>C	XP_006724905.1:p.Glu151Ala
XM_011531189.1:c.590A>C	XP_011529491.1:p.Glu197Ala
XM_011531190.1:c.542A>C	XP_011529492.1:p.Glu181Ala
XM_011531191.1:c.473A>C	XP_011529493.1:p.Glu158Ala
XM_011531192.1:c.470A>C	XP_011529494.1:p.Glu157Ala
XR_938511.1:n.1097A>C
XM_006724841.4:c.542A>C	XP_006724904.1:p.Glu181Ala
XM_006724842.4:c.452A>C	XP_006724905.1:p.Glu151Ala
XM_011531191.2:c.473A>C	XP_011529493.1:p.Glu158Ala
XM_017029761.1:c.734A>C	XP_016885250.1:p.Glu245Ala
XM_017029762.1:c.713A>C	XP_016885251.1:p.Glu238Ala
XM_017029763.1:c.536A>C	XP_016885252.1:p.Glu179Ala
XM_017029764.1:c.470A>C	XP_016885253.1:p.Glu157Ala
XM_017029765.2:c.410A>C	XP_016885254.1:p.Glu137Ala
XM_024452431.1:c.707A>C	XP_024308199.1:p.Glu236Ala
NM_000116.5:c.749A>C MANE Select	NP_000107.1:p.Glu250Ala
NM_001303465.2:c.761A>C	NP_001290394.1:p.Glu254Ala
NM_181311.4:c.659A>C	NP_851828.1:p.Glu220Ala
NM_181312.4:c.707A>C	NP_851829.1:p.Glu236Ala
NM_181313.4:c.617A>C	NP_851830.1:p.Glu206Ala
NR_024048.3:n.1070A>C