Canonical Allele Identifier: CA415185456

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649047G>T (hg19) ; chrX:g.154420708G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420708G>T , CM000685.2:g.154420708G>T	GRCh38
NC_000023.10:g.153649047G>T , CM000685.1:g.153649047G>T	GRCh37
NC_000023.9:g.153302241G>T	NCBI36
NG_009634.1:g.14171G>T
NG_009634.2:g.14174G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1560G>T
ENST00000698317.1:n.2176G>T
ENST00000698318.1:n.1959G>T
ENST00000698319.1:n.1322G>T
ENST00000698320.1:n.1210G>T
ENST00000470127.2:n.1223G>T
ENST00000475699.6:c.714G>T	ENSP00000419854.3:p.Glu238Asp
ENST00000483674.3:n.632G>T
ENST00000601016.6:c.750G>T MANE Select	ENSP00000469981.1:p.Glu250Asp
ENST00000612012.5:c.708G>T	ENSP00000482070.2:p.Glu236Asp
ENST00000612460.5:c.660G>T	ENSP00000481037.1:p.Glu220Asp
ENST00000614595.2:n.2097G>T
ENST00000615658.5:n.1339G>T
ENST00000616020.5:c.762G>T	ENSP00000483636.2:p.Glu254Asp
ENST00000617701.5:c.*763G>T	ENSP00000481645.1:n.*763G>T
ENST00000651139.1:c.-34G>T	ENSP00000498957.1:n.-34G>T
ENST00000652354.1:c.432G>T	ENSP00000498734.1:p.Glu144Asp
ENST00000652358.1:c.543G>T	ENSP00000498464.1:p.Glu181Asp
ENST00000652390.1:c.669G>T	ENSP00000498858.1:p.Glu223Asp
ENST00000652476.1:n.1416G>T
ENST00000652644.1:c.363G>T	ENSP00000498496.1:p.Glu121Asp
ENST00000652682.1:c.807G>T	ENSP00000498288.1:p.Glu269Asp
ENST00000652685.1:n.1103G>T
ENST00000369776.8:c.660G>T	ENSP00000358791.4:p.Glu220Asp
ENST00000426231.5:c.747G>T
ENST00000475699.5:c.708G>T	ENSP00000419854.2:p.Glu236Asp
ENST00000494912.5:n.1439G>T
ENST00000498029.1:n.208G>T
ENST00000601016.5:c.750G>T	ENSP00000469981.1:p.Glu250Asp
ENST00000612460.4:c.660G>T	ENSP00000481037.1:p.Glu220Asp
ENST00000613002.4:c.618G>T	ENSP00000478154.1:p.Glu206Asp
ENST00000615986.4:c.*478G>T	ENSP00000480133.1:n.*478G>T
NM_000116.4:c.750G>T	NP_000107.1:p.Glu250Asp
NM_001303465.1:c.762G>T	NP_001290394.1:p.Glu254Asp
NM_181311.3:c.660G>T	NP_851828.1:p.Glu220Asp
NM_181312.3:c.708G>T	NP_851829.1:p.Glu236Asp
NM_181313.3:c.618G>T	NP_851830.1:p.Glu206Asp
NR_024048.2:n.1092G>T
XM_006724836.1:c.804G>T	XP_006724899.1:p.Glu268Asp
XM_006724837.1:c.789G>T	XP_006724900.1:p.Glu263Asp
XM_006724839.1:c.672G>T	XP_006724902.1:p.Glu224Asp
XM_006724841.2:c.543G>T	XP_006724904.1:p.Glu181Asp
XM_006724842.2:c.453G>T	XP_006724905.1:p.Glu151Asp
XM_011531189.1:c.591G>T	XP_011529491.1:p.Glu197Asp
XM_011531190.1:c.543G>T	XP_011529492.1:p.Glu181Asp
XM_011531191.1:c.474G>T	XP_011529493.1:p.Glu158Asp
XM_011531192.1:c.471G>T	XP_011529494.1:p.Glu157Asp
XR_938511.1:n.1098G>T
XM_006724841.4:c.543G>T	XP_006724904.1:p.Glu181Asp
XM_006724842.4:c.453G>T	XP_006724905.1:p.Glu151Asp
XM_011531191.2:c.474G>T	XP_011529493.1:p.Glu158Asp
XM_017029761.1:c.735G>T	XP_016885250.1:p.Glu245Asp
XM_017029762.1:c.714G>T	XP_016885251.1:p.Glu238Asp
XM_017029763.1:c.537G>T	XP_016885252.1:p.Glu179Asp
XM_017029764.1:c.471G>T	XP_016885253.1:p.Glu157Asp
XM_017029765.2:c.411G>T	XP_016885254.1:p.Glu137Asp
XM_024452431.1:c.708G>T	XP_024308199.1:p.Glu236Asp
NM_000116.5:c.750G>T MANE Select	NP_000107.1:p.Glu250Asp
NM_001303465.2:c.762G>T	NP_001290394.1:p.Glu254Asp
NM_181311.4:c.660G>T	NP_851828.1:p.Glu220Asp
NM_181312.4:c.708G>T	NP_851829.1:p.Glu236Asp
NM_181313.4:c.618G>T	NP_851830.1:p.Glu206Asp
NR_024048.3:n.1071G>T